Difference between revisions of "HAEM5:Extranodal NK/T-cell lymphoma"

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(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)

Primary Author(s)*

Teodora Popa, MD, Queen's University

Amanda Xu, MD/MSc, Queen's University

Cancer Category / Type

Mature T-cell and NK-cell neoplasms

Cancer Sub-Classification / Subtype

EBV-positive T-cell and NK-cell neoplasms

Definition / Description of Disease

Extranodal NK/T-cell lymphoma (ENKTL) is a distinct entity in the 5th edition World Health Organization (WHO) classification system. It is referred to as "extranodal NK/T-cell lymphoma, nasal type" in the 2016 WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues revised 4th edition^[1].

ENKTL is a lymphoma of NK or T-cell lineage strongly associated with Epstein-Barr virus^[2].
It is a destructive angiocentric disease characterized by vascular destruction and necrosis^[3].
It can be clinically divided into nasal and non-nasal types, the latter most often occurring in the skin and intestinal tract^[1]^[2].
The lineage (NK or T-cell) has no clinical significance^[4].

The differential diagnosis includes sinonasal carcinomas and other lymphomas of the nasal cavity, such as diffuse large B-cell lymphoma^[5].

Synonyms / Terminology

Extranodal NK/T-cell lymphoma, nasal type; EBV-positive extranodal NK/T-cell lymphoma; angiocentric lymphoma (not recommended); lethal midline granuloma (historical)

Epidemiology / Prevalence

ENKTL is most prevalent in East Asia and Latin America. It represents less than 1% of non-Hodgkin lymphomas in the United States, with the highest incidence among Asian Pacific Islanders and Hispanic populations^[6].

Clinical Features

Common clinical presentations of nasal-type ENKTL include nasal mass, obstruction, and bleeding. Patients with abdominal involvement may present with abdominal pain, gastrointestinal (GI) bleed, or perforation^[7]. The presence of B symptoms is associated with higher clinical stage^[8].

Signs and Symptoms	Nasal mass, nasal obstruction, nasal bleeding Hoarseness, dysphagia, halitosis, airway obstruction, dysphonia Abdominal pain, GI bleeding, bowel perforation B symptoms (fever, weight loss, night sweats)
Laboratory Findings	No specific findings Cytopenias

Sites of Involvement

Most cases of ENKTL are nasal type, meaning they involve the upper aerodigestive tract. Extranasal ENKTL may involve the skin, testis, and gastrointestinal tract^[7]. Bone marrow involvement is uncommon^[9].

Morphologic Features

Diffuse lymphomatous infiltrate composed of small, medium, or large and anaplastic cells (or a mix of small and large cells). The cells have irregularly folded nuclei and moderate pale cytoplasm.
Loss of mucosal glands.
Angiocentric and angiodestructive growth pattern.
Coagulative necrosis and apoptosis.
Mitotic figures.

Pitfalls:

Mucosal ulceration and superimposed inflammation can mimic an inflammatory process, particularly in less aggressive cases^[10].
Pseudoepitheliomatous hyperplasia of the overlying mucosal epithelium can mimic squamous cell carcinoma^[11]^[12].

***Amanda, do you know if we have any good cases we could scan and add photos of?

Immunophenotype

The majority of cases are positive for cytoplasmic CD3ε, CD2, granzyme B, and TIA-1. Most ENKTLs are of NK-lineage and express CD56. Cases of T-lineage express T-cell receptor (TCR) and show clonal TCR gene rearrangements. All cases are EBV positive by in situ hybridization for Epstein-Barr virus-encoded small RNA (EBER). Other markers that may be expressed include HLA-DR, CD25, pSTAT3, CXCL13, IRF4/MUM1, CD16, Fas, FasL, MATK, and CD30^[13]^[14]^[15]^[16]^[17]^[18]^[19].

Finding	Marker
Positive (universal)	CD2, CD56, cytoplasmic CD3ε, cytotoxic markers (TIA-1, granzyme B, perforin) EBER / EBV
Positive (subset)	TCR αβ/γδ, HLA-DR, CD25, pSTAT3, CXCL13, IRF4/MUM1, CD16, Fas, FasL, MATK, CD30
Negative (universal)	CD4, CD8
Negative (subset)	Surface CD3 (subset of T-cell lineage)^[7]

Chromosomal Rearrangements (Gene Fusions)

No specific chromosomal translocation has been identified in ENKTL.

Chromosomal Rearrangement	Genes in Fusion (5’ or 3’ Segments)	Pathogenic Derivative	Prevalence	Diagnostic Significance (Yes, No or Unknown)	Prognostic Significance (Yes, No or Unknown)	Therapeutic Significance (Yes, No or Unknown)	Notes
N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A

Individual Region Genomic Gain / Loss / LOH

ENKTL shows recurring deletion at 6q21-25^[20]^[21].

Other less common chromosomal alterations include gain of 1p, 2q, 6p, 10q, 11q, 12q, 13q, 17q, 19p, 20q, and Xp; and loss of 1p36, 2p16, 4q12, 4q31-32, 5p14, 5q34-35, 6q13-14, 6q16-27, 11q22-23, 12q, 13q12-14, 13q14-34, 17p13, and entire chromosome X^[22]^[23]^[24]^[25]^[26].

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.)

Chr #	Gain / Loss / Amp / LOH	Minimal Region Genomic Coordinates [Genome Build]	Minimal Region Cytoband	Diagnostic Significance (Yes, No or Unknown)	Prognostic Significance (Yes, No or Unknown)	Therapeutic Significance (Yes, No or Unknown)	Notes
6	Loss		6q21-25	Unknown	Unknown	Unknown	This locus harbours multiple candidate tumour suppressor genes including ATG5, AIM1, PRDM1, PTPRK, HACE1, and FOXO3^[27]^[28]^[29].
EXAMPLE 8	EXAMPLE Gain	EXAMPLE chr8:1-145,138,636 [hg38]	EXAMPLE chr8	No	No	No	EXAMPLE Common recurrent secondary finding for t(8;21) (add reference).

Characteristic Chromosomal Patterns

***Characteristic?

Chromosomal Pattern	Diagnostic Significance (Yes, No or Unknown)	Prognostic Significance (Yes, No or Unknown)	Therapeutic Significance (Yes, No or Unknown)	Notes
Isochromosome 6p^[30]	Unknown	Unknown	Unknown	N/A
Isochromosome 7q^[31]	Unknown	Unknown	Unknown	N/A

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)

Gene; Genetic Alteration	Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)	Prevalence (COSMIC / TCGA / Other)	Concomitant Mutations	Mutually Exclusive Mutations	Therapeutic Significance (Yes, No or Unknown)	Notes
JAK3^[32]^[33]	Oncogene				JAK3 inhibitor is a potential therapeutic option^[34]
STAT3^[35]^[36]^[37]					STAT3 inhibitor^[38]
STAT5B^[35]^[36]
PTPRK^[29]
KIT^[29]
CTNNB1^[29]
TP53^[35]	Tumor suppressor gene	24-62%^[39]^[40]
MGA^[35]
PRDM1^[41]^[28]^[42]
ATG5^[41]
AIM1^[41]
FOXO3^[41]^[28]
HACE1^[41]^[43]
RAS^[40]
MYC
EXAMPLE: TP53; Variable LOF mutations EXAMPLE: EGFR; Exon 20 mutations EXAMPLE: BRAF; Activating mutations	EXAMPLE: TSG	EXAMPLE: 20% (COSMIC) EXAMPLE: 30% (add Reference)	EXAMPLE: IDH1 R123H	EXAMPLE: EGFR amplification		EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference).

Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

A 2015 study by Lu, et al uncovered recurrent mutations in the RNA helicase gene DDX3X and other epigenetic modifiers including KMT2D (MLL2), ARID1A, EP300, and ASXL3^[35].

Similarly, a 2015 study by Lee, et al reported that histone modification-related genes, including BCOR and KMT2D (MLL2), accounted for 38.2% of 34 ENKTL samples by next-generation sequencing^[37].

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Can include references in the table.)

Gene; Genetic Alteration	Pathway	Pathophysiologic Outcome
JAK3, STAT3, and STAT5B; Activating mutations	JAK/STAT pathway	Increased cell growth and proliferation

EXAMPLE: BRAF and MAP2K1; Activating mutations	EXAMPLE: MAPK signaling	EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations	EXAMPLE: Cell cycle regulation	EXAMPLE: Unregulated cell division
EXAMPLE: KMT2C and ARID1A; Inactivating mutations	EXAMPLE: Histone modification, chromatin remodeling	EXAMPLE: Abnormal gene expression program

Genetic Diagnostic Testing Methods

Put your text here

Familial Forms

Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)

Additional Information

Put your text here

Links

Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page (Instructions: Once you have a text placeholder entered to which you want to add a link, highlight that text, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address including the "http://www." portion.)

References

↑ ^1.0 ^1.1 Chan J. K. C., et al., (2017). Extranodal NK/T-cell lymphoma, nasal type, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p.368-371.
↑ ^2.0 ^2.1 Jaffe, E. S.; et al. (1999-01). "Extranodal peripheral T-cell and NK-cell neoplasms". American Journal of Clinical Pathology. 111 (1 Suppl 1): S46–55. ISSN 0002-9173. PMID 9894469. Check date values in: |date= (help)
↑ Aviles, A.; et al. (1992). "Angiocentric T-cell lymphoma of the nose, paranasal sinuses and hard palate". Hematological Oncology. 10 (3–4): 141–147. doi:10.1002/hon.2900100303. ISSN 0278-0232. PMID 1398510.
↑ Wang, Hua; et al. (2021-09). "NK-/T-cell lymphomas". Leukemia. 35 (9): 2460–2468. doi:10.1038/s41375-021-01313-2. ISSN 1476-5551. PMC 8410593 Check |pmc= value (help). PMID 34117356 Check |pmid= value (help). Check date values in: |date= (help)
↑ Steele, Toby O.; et al. (2016-09). "Lymphoma of the nasal cavity and paranasal sinuses: A case series". American Journal of Rhinology & Allergy. 30 (5): 335–339. doi:10.2500/ajra.2016.30.4347. ISSN 1945-8932. PMID 27657899. Check date values in: |date= (help)
↑ Haverkos, Bradley M.; et al. (2016-12). "Extranodal NK/T-cell lymphoma, nasal type (ENKTL-NT): An update on epidemiology, clinical presentation, and natural history in North American and European cases". Current hematologic malignancy reports. 11 (6): 514–527. doi:10.1007/s11899-016-0355-9. ISSN 1558-8211. PMC 5199232. PMID 27778143. Check date values in: |date= (help)
↑ ^7.0 ^7.1 ^7.2 Thida AM, Gohari P. Extranodal NK-Cell Lymphoma. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559207/
↑ Takahara, Miki; et al. (2021-06-25). "Extranodal NK/T-Cell Lymphoma, Nasal Type: Genetic, Biologic, and Clinical Aspects with a Central Focus on Epstein-Barr Virus Relation". Microorganisms. 9 (7): 1381. doi:10.3390/microorganisms9071381. ISSN 2076-2607. PMC 8304202 Check |pmc= value (help). PMID 34202088 Check |pmid= value (help).
↑ Wong, K. F.; et al. (2001-02). "Bone marrow involvement by nasal NK cell lymphoma at diagnosis is uncommon". American Journal of Clinical Pathology. 115 (2): 266–270. doi:10.1309/E5PR-6A9R-Q02N-8QVW. ISSN 0002-9173. PMID 11211616. Check date values in: |date= (help)
↑ Devins, K., Schuster, S.J., Caponetti, G.C. et al. Rare case of low-grade extranodal NK/T-cell lymphoma, nasal type, arising in the setting of chronic rhinosinusitis and harboring a novel N-terminal KIT mutation. Diagn Pathol 13, 92 (2018). https://doi.org/10.1186/s13000-018-0765-1
↑ Ling, Yi-Hong; et al. (2015-09). "Pseudoepitheliomatous hyperplasia mimicking invasive squamous cell carcinoma in extranodal natural killer/T-cell lymphoma: a report of 34 cases". Histopathology. 67 (3): 404–409. doi:10.1111/his.12656. ISSN 1365-2559. PMID 25619876. Check date values in: |date= (help)
↑ Xiang, Chun-Xiang; et al. (2019-07). "Laryngeal Extranodal Nasal-type Natural Killer/T-cell Lymphoma: A Clinicopathologic Study of 31 Cases in China". The American Journal of Surgical Pathology. 43 (7): 995–1004. doi:10.1097/PAS.0000000000001266. ISSN 1532-0979. PMID 31045893. Check date values in: |date= (help)
↑ Li, Shaoying; et al. (2013-01). "Extranodal NK/T-cell lymphoma, nasal type: a report of 73 cases at MD Anderson Cancer Center". The American Journal of Surgical Pathology. 37 (1): 14–23. doi:10.1097/PAS.0b013e31826731b5. ISSN 1532-0979. PMID 23232851. Check date values in: |date= (help)
↑ Jhuang, Jie-Yang; et al. (2015-02). "Extranodal natural killer/T-cell lymphoma, nasal type in Taiwan: a relatively higher frequency of T-cell lineage and poor survival for extranasal tumors". Human Pathology. 46 (2): 313–321. doi:10.1016/j.humpath.2014.11.008. ISSN 1532-8392. PMID 25554090. Check date values in: |date= (help)
↑ Pongpruttipan, Tawatchai; et al. (2012-04). "Extranodal NK/T-cell lymphoma, nasal type, includes cases of natural killer cell and αβ, γδ, and αβ/γδ T-cell origin: a comprehensive clinicopathologic and phenotypic study". The American Journal of Surgical Pathology. 36 (4): 481–499. doi:10.1097/PAS.0b013e31824433d8. ISSN 1532-0979. PMID 22314189. Check date values in: |date= (help)
↑ Jaffe, E. S.; et al. (1996-01). "Report of the Workshop on Nasal and Related Extranodal Angiocentric T/Natural Killer Cell Lymphomas. Definitions, differential diagnosis, and epidemiology". The American Journal of Surgical Pathology. 20 (1): 103–111. doi:10.1097/00000478-199601000-00012. ISSN 0147-5185. PMID 8540601. Check date values in: |date= (help)
↑ Ohshima, K.; et al. (1997-11). "Nasal T/NK cell lymphomas commonly express perforin and Fas ligand: important mediators of tissue damage". Histopathology. 31 (5): 444–450. doi:10.1046/j.1365-2559.1997.2880887.x. ISSN 0309-0167. PMID 9416485. Check date values in: |date= (help)
↑ Takata, Katsuyoshi; et al. (2015-01). "Primary cutaneous NK/T-cell lymphoma, nasal type and CD56-positive peripheral T-cell lymphoma: a cellular lineage and clinicopathologic study of 60 patients from Asia". The American Journal of Surgical Pathology. 39 (1): 1–12. doi:10.1097/PAS.0000000000000312. ISSN 1532-0979. PMID 25188863. Check date values in: |date= (help)
↑ Kuo, Tseng-Tong; et al. (2004-10). "Nasal NK/T cell lymphoma in Taiwan: a clinicopathologic study of 22 cases, with analysis of histologic subtypes, Epstein-Barr virus LMP-1 gene association, and treatment modalities". International Journal of Surgical Pathology. 12 (4): 375–387. doi:10.1177/106689690401200410. ISSN 1066-8969. PMID 15494863. Check date values in: |date= (help)
↑ Wong, K. F.; et al. (1997-09). "Identification of del(6)(q21q25) as a recurring chromosomal abnormality in putative NK cell lymphoma/leukaemia". British Journal of Haematology. 98 (4): 922–926. doi:10.1046/j.1365-2141.1997.3223139.x. ISSN 0007-1048. PMID 9326190. Check date values in: |date= (help)
↑ Ohshima, Koichi; et al. (2002-02). "Analysis of chromosome 6q deletion in EBV-associated NK cell leukaemia/lymphoma". Leukemia & Lymphoma. 43 (2): 293–300. doi:10.1080/10428190290006062. ISSN 1042-8194. PMID 11999560. Check date values in: |date= (help)
↑ Nakashima, Yasuhiro; et al. (2005-11). "Genome-wide array-based comparative genomic hybridization of natural killer cell lymphoma/leukemia: different genomic alteration patterns of aggressive NK-cell leukemia and extranodal Nk/T-cell lymphoma, nasal type". Genes, Chromosomes & Cancer. 44 (3): 247–255. doi:10.1002/gcc.20245. ISSN 1045-2257. PMID 16049916. Check date values in: |date= (help)
↑ Siu, L. L.; et al. (2000-12). "Consistent patterns of allelic loss in natural killer cell lymphoma". The American Journal of Pathology. 157 (6): 1803–1809. doi:10.1016/S0002-9440(10)64818-3. ISSN 0002-9440. PMC 1885756. PMID 11106552. Check date values in: |date= (help)
↑ Siu, L. L.; et al. (1999-11). "Comparative genomic hybridization analysis of natural killer cell lymphoma/leukemia. Recognition of consistent patterns of genetic alterations". The American Journal of Pathology. 155 (5): 1419–1425. doi:10.1016/S0002-9440(10)65454-5. ISSN 0002-9440. PMC 1866965. PMID 10550295. Check date values in: |date= (help)
↑ Wong, K. F.; et al. (1999-07). "Cytogenetic abnormalities in natural killer cell lymphoma/leukaemia--is there a consistent pattern?". Leukemia & Lymphoma. 34 (3–4): 241–250. doi:10.3109/10428199909050949. ISSN 1042-8194. PMID 10439361. Check date values in: |date= (help)
↑ Ko, Y. H.; et al. (2001-04-15). "Comparative genomic hybridization study of nasal-type NK/T-cell lymphoma". Cytometry. 46 (2): 85–91. doi:10.1002/cyto.1069. ISSN 0196-4763. PMID 11309817.
↑ Iqbal, J.; et al. (2009-06). "Genomic analyses reveal global functional alterations that promote tumor growth and novel tumor suppressor genes in natural killer-cell malignancies". Leukemia. 23 (6): 1139–1151. doi:10.1038/leu.2009.3. ISSN 1476-5551. PMID 19194464. Check date values in: |date= (help)
↑ ^28.0 ^28.1 ^28.2 Karube, Kennosuke; et al. (2011-09-22). "Identification of FOXO3 and PRDM1 as tumor-suppressor gene candidates in NK-cell neoplasms by genomic and functional analyses". Blood. 118 (12): 3195–3204. doi:10.1182/blood-2011-04-346890. ISSN 1528-0020. PMID 21690554.
↑ ^29.0 ^29.1 ^29.2 ^29.3 Chen, Yun-Wen; et al. (2015-03-05). "Receptor-type tyrosine-protein phosphatase κ directly targets STAT3 activation for tumor suppression in nasal NK/T-cell lymphoma". Blood. 125 (10): 1589–1600. doi:10.1182/blood-2014-07-588970. ISSN 1528-0020. PMID 25612622.
↑ Tien, H. F.; et al. (1997-06). "Clonal chromosomal abnormalities as direct evidence for clonality in nasal T/natural killer cell lymphomas". British Journal of Haematology. 97 (3): 621–625. doi:10.1046/j.1365-2141.1997.752711.x. ISSN 0007-1048. PMID 9207410. Check date values in: |date= (help)
↑ Feldman, Andrew L.; et al. (2008-08). "Incidence of TCR and TCL1 gene translocations and isochromosome 7q in peripheral T-cell lymphomas using fluorescence in situ hybridization". American Journal of Clinical Pathology. 130 (2): 178–185. doi:10.1309/PNXUKA1CFJMVGCN1. ISSN 0002-9173. PMC 3625137. PMID 18628085. Check date values in: |date= (help)
↑ Koo, Ghee Chong; et al. (2012-07). "Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma". Cancer Discovery. 2 (7): 591–597. doi:10.1158/2159-8290.CD-12-0028. ISSN 2159-8290. PMID 22705984. Check date values in: |date= (help)
↑ Bouchekioua, A.; et al. (2014-02). "JAK3 deregulation by activating mutations confers invasive growth advantage in extranodal nasal-type natural killer cell lymphoma". Leukemia. 28 (2): 338–348. doi:10.1038/leu.2013.157. ISSN 1476-5551. PMID 23689514. Check date values in: |date= (help)
↑ Nairismägi, M.-L.; et al. (2018-05). "Oncogenic activation of JAK3-STAT signaling confers clinical sensitivity to PRN371, a novel selective and potent JAK3 inhibitor, in natural killer/T-cell lymphoma". Leukemia. 32 (5): 1147–1156. doi:10.1038/s41375-017-0004-x. ISSN 1476-5551. PMC 5940653. PMID 29434279. Check date values in: |date= (help)
↑ ^35.0 ^35.1 ^35.2 ^35.3 ^35.4 Jiang, Lu; et al. (2015-09). "Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma". Nature Genetics. 47 (9): 1061–1066. doi:10.1038/ng.3358. ISSN 1546-1718. PMID 26192917. Check date values in: |date= (help)
↑ ^36.0 ^36.1 Küçük, Can; et al. (2015-01-14). "Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells". Nature Communications. 6: 6025. doi:10.1038/ncomms7025. ISSN 2041-1723. PMC 7743911 Check |pmc= value (help). PMID 25586472.
↑ ^37.0 ^37.1 Lee, Seungbok; et al. (2015-07-10). "Genetic alterations of JAK/STAT cascade and histone modification in extranodal NK/T-cell lymphoma nasal type". Oncotarget. 6 (19): 17764–17776. doi:10.18632/oncotarget.3776. ISSN 1949-2553. PMC 4627344. PMID 25980440.
↑ Wang, Yali; et al. (2023-08). "Preclinical characterization of WB737, a potent and selective STAT3 inhibitor, in natural killer/T-cell lymphoma". MedComm. 4 (4): e284. doi:10.1002/mco2.284. ISSN 2688-2663. PMC PMC10274570 Check |pmc= value (help). PMID 37334274 Check |pmid= value (help). Check date values in: |date= (help)CS1 maint: PMC format (link)
↑ Quintanilla-Martinez, L.; et al. (2001-12). "p53 Mutations in nasal natural killer/T-cell lymphoma from Mexico: association with large cell morphology and advanced disease". The American Journal of Pathology. 159 (6): 2095–2105. doi:10.1016/S0002-9440(10)63061-1. ISSN 0002-9440. PMC 1850589. PMID 11733360. Check date values in: |date= (help)
↑ ^40.0 ^40.1 Hongyo, Tadashi; et al. (2005-02). "p53, K-ras, c-kit and beta-catenin gene mutations in sinonasal NK/T-cell lymphoma in Korea and Japan". Oncology Reports. 13 (2): 265–271. ISSN 1021-335X. PMID 15643509. Check date values in: |date= (help)
↑ ^41.0 ^41.1 ^41.2 ^41.3 ^41.4 Huang, Yenlin; et al. (2013-03). "Molecular underpinning of extranodal NK/T-cell lymphoma". Best Practice & Research. Clinical Haematology. 26 (1): 57–74. doi:10.1016/j.beha.2013.04.006. ISSN 1532-1924. PMID 23768641. Check date values in: |date= (help)
↑ Küçük, Can; et al. (2011-12-13). "PRDM1 is a tumor suppressor gene in natural killer cell malignancies". Proceedings of the National Academy of Sciences of the United States of America. 108 (50): 20119–20124. doi:10.1073/pnas.1115128108. ISSN 1091-6490. PMC 3250125. PMID 22143801.
↑ Huang, Yenlin; et al. (2010-02-11). "Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type". Blood. 115 (6): 1226–1237. doi:10.1182/blood-2009-05-221275. ISSN 1528-0020. PMC 2826234. PMID 19965620.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. *Citation of this Page: “Extranodal NK/T-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 06/21/2024, https://ccga.io/index.php/HAEM5:Extranodal_NK/T-cell_lymphoma.

[:5-1] 1.0 ^1.1 Chan J. K. C., et al., (2017). Extranodal NK/T-cell lymphoma, nasal type, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p.368-371.

[:6-2] 2.0 ^2.1 Jaffe, E. S.; et al. (1999-01). "Extranodal peripheral T-cell and NK-cell neoplasms". American Journal of Clinical Pathology. 111 (1 Suppl 1): S46–55. ISSN 0002-9173. PMID 9894469. Check date values in: |date= (help)

[3] Aviles, A.; et al. (1992). "Angiocentric T-cell lymphoma of the nose, paranasal sinuses and hard palate". Hematological Oncology. 10 (3–4): 141–147. doi:10.1002/hon.2900100303. ISSN 0278-0232. PMID 1398510.

[4] Wang, Hua; et al. (2021-09). "NK-/T-cell lymphomas". Leukemia. 35 (9): 2460–2468. doi:10.1038/s41375-021-01313-2. ISSN 1476-5551. PMC 8410593 Check |pmc= value (help). PMID 34117356 Check |pmid= value (help). Check date values in: |date= (help)

[5] Steele, Toby O.; et al. (2016-09). "Lymphoma of the nasal cavity and paranasal sinuses: A case series". American Journal of Rhinology & Allergy. 30 (5): 335–339. doi:10.2500/ajra.2016.30.4347. ISSN 1945-8932. PMID 27657899. Check date values in: |date= (help)

[6] Haverkos, Bradley M.; et al. (2016-12). "Extranodal NK/T-cell lymphoma, nasal type (ENKTL-NT): An update on epidemiology, clinical presentation, and natural history in North American and European cases". Current hematologic malignancy reports. 11 (6): 514–527. doi:10.1007/s11899-016-0355-9. ISSN 1558-8211. PMC 5199232. PMID 27778143. Check date values in: |date= (help)

[:0-7] 7.0 ^7.1 ^7.2 Thida AM, Gohari P. Extranodal NK-Cell Lymphoma. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559207/

[8] Takahara, Miki; et al. (2021-06-25). "Extranodal NK/T-Cell Lymphoma, Nasal Type: Genetic, Biologic, and Clinical Aspects with a Central Focus on Epstein-Barr Virus Relation". Microorganisms. 9 (7): 1381. doi:10.3390/microorganisms9071381. ISSN 2076-2607. PMC 8304202 Check |pmc= value (help). PMID 34202088 Check |pmid= value (help).

[9] Wong, K. F.; et al. (2001-02). "Bone marrow involvement by nasal NK cell lymphoma at diagnosis is uncommon". American Journal of Clinical Pathology. 115 (2): 266–270. doi:10.1309/E5PR-6A9R-Q02N-8QVW. ISSN 0002-9173. PMID 11211616. Check date values in: |date= (help)

[10] Devins, K., Schuster, S.J., Caponetti, G.C. et al. Rare case of low-grade extranodal NK/T-cell lymphoma, nasal type, arising in the setting of chronic rhinosinusitis and harboring a novel N-terminal KIT mutation. Diagn Pathol 13, 92 (2018). https://doi.org/10.1186/s13000-018-0765-1

[11] Ling, Yi-Hong; et al. (2015-09). "Pseudoepitheliomatous hyperplasia mimicking invasive squamous cell carcinoma in extranodal natural killer/T-cell lymphoma: a report of 34 cases". Histopathology. 67 (3): 404–409. doi:10.1111/his.12656. ISSN 1365-2559. PMID 25619876. Check date values in: |date= (help)

[12] Xiang, Chun-Xiang; et al. (2019-07). "Laryngeal Extranodal Nasal-type Natural Killer/T-cell Lymphoma: A Clinicopathologic Study of 31 Cases in China". The American Journal of Surgical Pathology. 43 (7): 995–1004. doi:10.1097/PAS.0000000000001266. ISSN 1532-0979. PMID 31045893. Check date values in: |date= (help)

[13] Li, Shaoying; et al. (2013-01). "Extranodal NK/T-cell lymphoma, nasal type: a report of 73 cases at MD Anderson Cancer Center". The American Journal of Surgical Pathology. 37 (1): 14–23. doi:10.1097/PAS.0b013e31826731b5. ISSN 1532-0979. PMID 23232851. Check date values in: |date= (help)

[14] Jhuang, Jie-Yang; et al. (2015-02). "Extranodal natural killer/T-cell lymphoma, nasal type in Taiwan: a relatively higher frequency of T-cell lineage and poor survival for extranasal tumors". Human Pathology. 46 (2): 313–321. doi:10.1016/j.humpath.2014.11.008. ISSN 1532-8392. PMID 25554090. Check date values in: |date= (help)

[15] Pongpruttipan, Tawatchai; et al. (2012-04). "Extranodal NK/T-cell lymphoma, nasal type, includes cases of natural killer cell and αβ, γδ, and αβ/γδ T-cell origin: a comprehensive clinicopathologic and phenotypic study". The American Journal of Surgical Pathology. 36 (4): 481–499. doi:10.1097/PAS.0b013e31824433d8. ISSN 1532-0979. PMID 22314189. Check date values in: |date= (help)

[16] Jaffe, E. S.; et al. (1996-01). "Report of the Workshop on Nasal and Related Extranodal Angiocentric T/Natural Killer Cell Lymphomas. Definitions, differential diagnosis, and epidemiology". The American Journal of Surgical Pathology. 20 (1): 103–111. doi:10.1097/00000478-199601000-00012. ISSN 0147-5185. PMID 8540601. Check date values in: |date= (help)

[17] Ohshima, K.; et al. (1997-11). "Nasal T/NK cell lymphomas commonly express perforin and Fas ligand: important mediators of tissue damage". Histopathology. 31 (5): 444–450. doi:10.1046/j.1365-2559.1997.2880887.x. ISSN 0309-0167. PMID 9416485. Check date values in: |date= (help)

[18] Takata, Katsuyoshi; et al. (2015-01). "Primary cutaneous NK/T-cell lymphoma, nasal type and CD56-positive peripheral T-cell lymphoma: a cellular lineage and clinicopathologic study of 60 patients from Asia". The American Journal of Surgical Pathology. 39 (1): 1–12. doi:10.1097/PAS.0000000000000312. ISSN 1532-0979. PMID 25188863. Check date values in: |date= (help)

[19] Kuo, Tseng-Tong; et al. (2004-10). "Nasal NK/T cell lymphoma in Taiwan: a clinicopathologic study of 22 cases, with analysis of histologic subtypes, Epstein-Barr virus LMP-1 gene association, and treatment modalities". International Journal of Surgical Pathology. 12 (4): 375–387. doi:10.1177/106689690401200410. ISSN 1066-8969. PMID 15494863. Check date values in: |date= (help)

[20] Wong, K. F.; et al. (1997-09). "Identification of del(6)(q21q25) as a recurring chromosomal abnormality in putative NK cell lymphoma/leukaemia". British Journal of Haematology. 98 (4): 922–926. doi:10.1046/j.1365-2141.1997.3223139.x. ISSN 0007-1048. PMID 9326190. Check date values in: |date= (help)

[21] Ohshima, Koichi; et al. (2002-02). "Analysis of chromosome 6q deletion in EBV-associated NK cell leukaemia/lymphoma". Leukemia & Lymphoma. 43 (2): 293–300. doi:10.1080/10428190290006062. ISSN 1042-8194. PMID 11999560. Check date values in: |date= (help)

[22] Nakashima, Yasuhiro; et al. (2005-11). "Genome-wide array-based comparative genomic hybridization of natural killer cell lymphoma/leukemia: different genomic alteration patterns of aggressive NK-cell leukemia and extranodal Nk/T-cell lymphoma, nasal type". Genes, Chromosomes & Cancer. 44 (3): 247–255. doi:10.1002/gcc.20245. ISSN 1045-2257. PMID 16049916. Check date values in: |date= (help)

[23] Siu, L. L.; et al. (2000-12). "Consistent patterns of allelic loss in natural killer cell lymphoma". The American Journal of Pathology. 157 (6): 1803–1809. doi:10.1016/S0002-9440(10)64818-3. ISSN 0002-9440. PMC 1885756. PMID 11106552. Check date values in: |date= (help)

[24] Siu, L. L.; et al. (1999-11). "Comparative genomic hybridization analysis of natural killer cell lymphoma/leukemia. Recognition of consistent patterns of genetic alterations". The American Journal of Pathology. 155 (5): 1419–1425. doi:10.1016/S0002-9440(10)65454-5. ISSN 0002-9440. PMC 1866965. PMID 10550295. Check date values in: |date= (help)

[25] Wong, K. F.; et al. (1999-07). "Cytogenetic abnormalities in natural killer cell lymphoma/leukaemia--is there a consistent pattern?". Leukemia & Lymphoma. 34 (3–4): 241–250. doi:10.3109/10428199909050949. ISSN 1042-8194. PMID 10439361. Check date values in: |date= (help)

[26] Ko, Y. H.; et al. (2001-04-15). "Comparative genomic hybridization study of nasal-type NK/T-cell lymphoma". Cytometry. 46 (2): 85–91. doi:10.1002/cyto.1069. ISSN 0196-4763. PMID 11309817.

[27] Iqbal, J.; et al. (2009-06). "Genomic analyses reveal global functional alterations that promote tumor growth and novel tumor suppressor genes in natural killer-cell malignancies". Leukemia. 23 (6): 1139–1151. doi:10.1038/leu.2009.3. ISSN 1476-5551. PMID 19194464. Check date values in: |date= (help)

[:7-28] 28.0 ^28.1 ^28.2 Karube, Kennosuke; et al. (2011-09-22). "Identification of FOXO3 and PRDM1 as tumor-suppressor gene candidates in NK-cell neoplasms by genomic and functional analyses". Blood. 118 (12): 3195–3204. doi:10.1182/blood-2011-04-346890. ISSN 1528-0020. PMID 21690554.

[:1-29] 29.0 ^29.1 ^29.2 ^29.3 Chen, Yun-Wen; et al. (2015-03-05). "Receptor-type tyrosine-protein phosphatase κ directly targets STAT3 activation for tumor suppression in nasal NK/T-cell lymphoma". Blood. 125 (10): 1589–1600. doi:10.1182/blood-2014-07-588970. ISSN 1528-0020. PMID 25612622.

[30] Tien, H. F.; et al. (1997-06). "Clonal chromosomal abnormalities as direct evidence for clonality in nasal T/natural killer cell lymphomas". British Journal of Haematology. 97 (3): 621–625. doi:10.1046/j.1365-2141.1997.752711.x. ISSN 0007-1048. PMID 9207410. Check date values in: |date= (help)

[31] Feldman, Andrew L.; et al. (2008-08). "Incidence of TCR and TCL1 gene translocations and isochromosome 7q in peripheral T-cell lymphomas using fluorescence in situ hybridization". American Journal of Clinical Pathology. 130 (2): 178–185. doi:10.1309/PNXUKA1CFJMVGCN1. ISSN 0002-9173. PMC 3625137. PMID 18628085. Check date values in: |date= (help)

[32] Koo, Ghee Chong; et al. (2012-07). "Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma". Cancer Discovery. 2 (7): 591–597. doi:10.1158/2159-8290.CD-12-0028. ISSN 2159-8290. PMID 22705984. Check date values in: |date= (help)

[33] Bouchekioua, A.; et al. (2014-02). "JAK3 deregulation by activating mutations confers invasive growth advantage in extranodal nasal-type natural killer cell lymphoma". Leukemia. 28 (2): 338–348. doi:10.1038/leu.2013.157. ISSN 1476-5551. PMID 23689514. Check date values in: |date= (help)

[34] Nairismägi, M.-L.; et al. (2018-05). "Oncogenic activation of JAK3-STAT signaling confers clinical sensitivity to PRN371, a novel selective and potent JAK3 inhibitor, in natural killer/T-cell lymphoma". Leukemia. 32 (5): 1147–1156. doi:10.1038/s41375-017-0004-x. ISSN 1476-5551. PMC 5940653. PMID 29434279. Check date values in: |date= (help)

[:2-35] 35.0 ^35.1 ^35.2 ^35.3 ^35.4 Jiang, Lu; et al. (2015-09). "Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma". Nature Genetics. 47 (9): 1061–1066. doi:10.1038/ng.3358. ISSN 1546-1718. PMID 26192917. Check date values in: |date= (help)

[:3-36] 36.0 ^36.1 Küçük, Can; et al. (2015-01-14). "Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells". Nature Communications. 6: 6025. doi:10.1038/ncomms7025. ISSN 2041-1723. PMC 7743911 Check |pmc= value (help). PMID 25586472.

[:4-37] 37.0 ^37.1 Lee, Seungbok; et al. (2015-07-10). "Genetic alterations of JAK/STAT cascade and histone modification in extranodal NK/T-cell lymphoma nasal type". Oncotarget. 6 (19): 17764–17776. doi:10.18632/oncotarget.3776. ISSN 1949-2553. PMC 4627344. PMID 25980440.

[38] Wang, Yali; et al. (2023-08). "Preclinical characterization of WB737, a potent and selective STAT3 inhibitor, in natural killer/T-cell lymphoma". MedComm. 4 (4): e284. doi:10.1002/mco2.284. ISSN 2688-2663. PMC PMC10274570 Check |pmc= value (help). PMID 37334274 Check |pmid= value (help). Check date values in: |date= (help)CS1 maint: PMC format (link)

[39] Quintanilla-Martinez, L.; et al. (2001-12). "p53 Mutations in nasal natural killer/T-cell lymphoma from Mexico: association with large cell morphology and advanced disease". The American Journal of Pathology. 159 (6): 2095–2105. doi:10.1016/S0002-9440(10)63061-1. ISSN 0002-9440. PMC 1850589. PMID 11733360. Check date values in: |date= (help)

[:8-40] 40.0 ^40.1 Hongyo, Tadashi; et al. (2005-02). "p53, K-ras, c-kit and beta-catenin gene mutations in sinonasal NK/T-cell lymphoma in Korea and Japan". Oncology Reports. 13 (2): 265–271. ISSN 1021-335X. PMID 15643509. Check date values in: |date= (help)

[:9-41] 41.0 ^41.1 ^41.2 ^41.3 ^41.4 Huang, Yenlin; et al. (2013-03). "Molecular underpinning of extranodal NK/T-cell lymphoma". Best Practice & Research. Clinical Haematology. 26 (1): 57–74. doi:10.1016/j.beha.2013.04.006. ISSN 1532-1924. PMID 23768641. Check date values in: |date= (help)

[42] Küçük, Can; et al. (2011-12-13). "PRDM1 is a tumor suppressor gene in natural killer cell malignancies". Proceedings of the National Academy of Sciences of the United States of America. 108 (50): 20119–20124. doi:10.1073/pnas.1115128108. ISSN 1091-6490. PMC 3250125. PMID 22143801.

[43] Huang, Yenlin; et al. (2010-02-11). "Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type". Blood. 115 (6): 1226–1237. doi:10.1182/blood-2009-05-221275. ISSN 1528-0020. PMC 2826234. PMID 19965620.

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@@ Line 25: / Line 25: @@
 ==Definition / Description of Disease==
-Extranodal NK/T-cell lymphoma is a distinct entity in the [https://tumourclassification.iarc.who.int/chaptercontent/63/258 5th edition World Health Organization (WHO) classification system]. It is referred to as "extranodal NK/T-cell lymphoma, nasal type" in the 2016 WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues revised 4th edition<ref>Chan J. K. C., et al., (2017). Extranodal NK/T-cell lymphoma, nasal type, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p.368-371.</ref>.
+Extranodal NK/T-cell lymphoma (ENKTL) is a distinct entity in the [https://tumourclassification.iarc.who.int/chaptercontent/63/258 5th edition World Health Organization (WHO) classification system]. It is referred to as "extranodal NK/T-cell lymphoma, nasal type" in the 2016 WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues revised 4th edition<ref name=":5">Chan J. K. C., et al., (2017). Extranodal NK/T-cell lymphoma, nasal type, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p.368-371.</ref>.
-Extranodal NK/T-cell lymphoma (ENKTL) is a lymphoma of NK or T-cell lineage strongly associated with Epstein-Barr virus (citation needed)
+* ENKTL is a lymphoma of NK or T-cell lineage strongly associated with Epstein-Barr virus<ref name=":6">{{Cite journal|last=Jaffe|first=E. S.|last2=Krenacs|first2=L.|last3=Kumar|first3=S.|last4=Kingma|first4=D. W.|last5=Raffeld|first5=M.|date=1999-01|title=Extranodal peripheral T-cell and NK-cell neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/9894469|journal=American Journal of Clinical Pathology|volume=111|issue=1 Suppl 1|pages=S46–55|issn=0002-9173|pmid=9894469}}</ref>.
+* It is a destructive angiocentric disease characterized by vascular destruction and necrosis<ref>{{Cite journal|last=Aviles|first=A.|last2=Rodriguez|first2=L.|last3=Guzman|first3=R.|last4=Talavera|first4=A.|last5=Garcia|first5=E. L.|last6=Diaz-Maqueo|first6=J. C.|date=1992|title=Angiocentric T-cell lymphoma of the nose, paranasal sinuses and hard palate|url=https://pubmed.ncbi.nlm.nih.gov/1398510|journal=Hematological Oncology|volume=10|issue=3-4|pages=141–147|doi=10.1002/hon.2900100303|issn=0278-0232|pmid=1398510}}</ref>.
+* It can be clinically divided into nasal and non-nasal types, the latter most often occurring in the skin and intestinal tract<ref name=":5" /><ref name=":6" />.
+* The lineage (NK or T-cell) has no clinical significance<ref>{{Cite journal|last=Wang|first=Hua|last2=Fu|first2=Bi-Bo|last3=Gale|first3=Robert Peter|last4=Liang|first4=Yang|date=2021-09|title=NK-/T-cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/34117356|journal=Leukemia|volume=35|issue=9|pages=2460–2468|doi=10.1038/s41375-021-01313-2|issn=1476-5551|pmc=8410593|pmid=34117356}}</ref>.
-ENKTL is a destructive angiocentric disease characterized by vascular destruction and necrosis (citation needed)
+* The differential diagnosis includes sinonasal carcinomas and other lymphomas of the nasal cavity, such as diffuse large B-cell lymphoma<ref>{{Cite journal|last=Steele|first=Toby O.|last2=Buniel|first2=Maria C.|last3=Mace|first3=Jess C.|last4=El Rassi|first4=Edward|last5=Smith|first5=Timothy L.|date=2016-09|title=Lymphoma of the nasal cavity and paranasal sinuses: A case series|url=https://pubmed.ncbi.nlm.nih.gov/27657899|journal=American Journal of Rhinology & Allergy|volume=30|issue=5|pages=335–339|doi=10.2500/ajra.2016.30.4347|issn=1945-8932|pmid=27657899}}</ref>.
-It can be clinically divided into nasal and non-nasal types (citation needed)
-The lineage (NK or T-cell) has no clinical significance (citation needed)
-Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </span>
 ==Synonyms / Terminology==
@@ Line 142: / Line 139: @@
 |Unknown
 |Unknown
-|This locus harbours multiple candidate tumour suppressor genes including ''ATG5'', ''AIM1'', ''PRDM1'', ''PTPRK'', ''HACE1'', and ''FOXO3''<ref>{{Cite journal|last=Iqbal|first=J.|last2=Kucuk|first2=C.|last3=Deleeuw|first3=R. J.|last4=Srivastava|first4=G.|last5=Tam|first5=W.|last6=Geng|first6=H.|last7=Klinkebiel|first7=D.|last8=Christman|first8=J. K.|last9=Patel|first9=K.|date=2009-06|title=Genomic analyses reveal global functional alterations that promote tumor growth and novel tumor suppressor genes in natural killer-cell malignancies|url=https://pubmed.ncbi.nlm.nih.gov/19194464|journal=Leukemia|volume=23|issue=6|pages=1139–1151|doi=10.1038/leu.2009.3|issn=1476-5551|pmid=19194464}}</ref><ref>{{Cite journal|last=Karube|first=Kennosuke|last2=Nakagawa|first2=Masao|last3=Tsuzuki|first3=Shinobu|last4=Takeuchi|first4=Ichiro|last5=Honma|first5=Keiichiro|last6=Nakashima|first6=Yasuhiro|last7=Shimizu|first7=Norio|last8=Ko|first8=Young-Hyeh|last9=Morishima|first9=Yasuo|date=2011-09-22|title=Identification of FOXO3 and PRDM1 as tumor-suppressor gene candidates in NK-cell neoplasms by genomic and functional analyses|url=https://pubmed.ncbi.nlm.nih.gov/21690554|journal=Blood|volume=118|issue=12|pages=3195–3204|doi=10.1182/blood-2011-04-346890|issn=1528-0020|pmid=21690554}}</ref><ref name=":1">{{Cite journal|last=Chen|first=Yun-Wen|last2=Guo|first2=Tianhuan|last3=Shen|first3=Lijun|last4=Wong|first4=Kai-Yau|last5=Tao|first5=Qian|last6=Choi|first6=William W. L.|last7=Au-Yeung|first7=Rex K. H.|last8=Chan|first8=Yuen-Piu|last9=Wong|first9=Michelle L. Y.|date=2015-03-05|title=Receptor-type tyrosine-protein phosphatase κ directly targets STAT3 activation for tumor suppression in nasal NK/T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/25612622|journal=Blood|volume=125|issue=10|pages=1589–1600|doi=10.1182/blood-2014-07-588970|issn=1528-0020|pmid=25612622}}</ref>.
+|This locus harbours multiple candidate tumour suppressor genes including ''ATG5'', ''AIM1'', ''PRDM1'', ''PTPRK'', ''HACE1'', and ''FOXO3''<ref>{{Cite journal|last=Iqbal|first=J.|last2=Kucuk|first2=C.|last3=Deleeuw|first3=R. J.|last4=Srivastava|first4=G.|last5=Tam|first5=W.|last6=Geng|first6=H.|last7=Klinkebiel|first7=D.|last8=Christman|first8=J. K.|last9=Patel|first9=K.|date=2009-06|title=Genomic analyses reveal global functional alterations that promote tumor growth and novel tumor suppressor genes in natural killer-cell malignancies|url=https://pubmed.ncbi.nlm.nih.gov/19194464|journal=Leukemia|volume=23|issue=6|pages=1139–1151|doi=10.1038/leu.2009.3|issn=1476-5551|pmid=19194464}}</ref><ref name=":7">{{Cite journal|last=Karube|first=Kennosuke|last2=Nakagawa|first2=Masao|last3=Tsuzuki|first3=Shinobu|last4=Takeuchi|first4=Ichiro|last5=Honma|first5=Keiichiro|last6=Nakashima|first6=Yasuhiro|last7=Shimizu|first7=Norio|last8=Ko|first8=Young-Hyeh|last9=Morishima|first9=Yasuo|date=2011-09-22|title=Identification of FOXO3 and PRDM1 as tumor-suppressor gene candidates in NK-cell neoplasms by genomic and functional analyses|url=https://pubmed.ncbi.nlm.nih.gov/21690554|journal=Blood|volume=118|issue=12|pages=3195–3204|doi=10.1182/blood-2011-04-346890|issn=1528-0020|pmid=21690554}}</ref><ref name=":1">{{Cite journal|last=Chen|first=Yun-Wen|last2=Guo|first2=Tianhuan|last3=Shen|first3=Lijun|last4=Wong|first4=Kai-Yau|last5=Tao|first5=Qian|last6=Choi|first6=William W. L.|last7=Au-Yeung|first7=Rex K. H.|last8=Chan|first8=Yuen-Piu|last9=Wong|first9=Michelle L. Y.|date=2015-03-05|title=Receptor-type tyrosine-protein phosphatase κ directly targets STAT3 activation for tumor suppression in nasal NK/T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/25612622|journal=Blood|volume=125|issue=10|pages=1589–1600|doi=10.1182/blood-2014-07-588970|issn=1528-0020|pmid=25612622}}</ref>.
 |-
 |EXAMPLE
@@ Line 163: / Line 160: @@
 ==Characteristic Chromosomal Patterns==
-No characteristic chromosomal patterns have been identified in ENKTL.
+'''***Characteristic?'''
 {| class="wikitable sortable"
@@ Line 173: / Line 170: @@
 !Notes
 |-
+|Isochromosome 6p<ref>{{Cite journal|last=Tien|first=H. F.|last2=Su|first2=I. J.|last3=Tang|first3=J. L.|last4=Liu|first4=M. C.|last5=Lee|first5=F. Y.|last6=Chen|first6=Y. C.|last7=Chuang|first7=S. M.|date=1997-06|title=Clonal chromosomal abnormalities as direct evidence for clonality in nasal T/natural killer cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/9207410|journal=British Journal of Haematology|volume=97|issue=3|pages=621–625|doi=10.1046/j.1365-2141.1997.752711.x|issn=0007-1048|pmid=9207410}}</ref>
+|Unknown
+|Unknown
+|Unknown
 |N/A
-|N/A
+|-
-|N/A
+|Isochromosome 7q<ref>{{Cite journal|last=Feldman|first=Andrew L.|last2=Law|first2=Mark|last3=Grogg|first3=Karen L.|last4=Thorland|first4=Erik C.|last5=Fink|first5=Stephanie|last6=Kurtin|first6=Paul J.|last7=Macon|first7=William R.|last8=Remstein|first8=Ellen D.|last9=Dogan|first9=Ahmet|date=2008-08|title=Incidence of TCR and TCL1 gene translocations and isochromosome 7q in peripheral T-cell lymphomas using fluorescence in situ hybridization|url=https://pubmed.ncbi.nlm.nih.gov/18628085|journal=American Journal of Clinical Pathology|volume=130|issue=2|pages=178–185|doi=10.1309/PNXUKA1CFJMVGCN1|issn=0002-9173|pmc=3625137|pmid=18628085}}</ref>
-|N/A
+|Unknown
+|Unknown
+|Unknown
 |N/A
 |}
@@ Line 198: / Line 201: @@
 |
 |
 |JAK3 inhibitor is a potential therapeutic option<ref>{{Cite journal|last=Nairismägi|first=M.-L.|last2=Gerritsen|first2=M. E.|last3=Li|first3=Z. M.|last4=Wijaya|first4=G. C.|last5=Chia|first5=B. K. H.|last6=Laurensia|first6=Y.|last7=Lim|first7=J. Q.|last8=Yeoh|first8=K. W.|last9=Yao|first9=X. S.|date=2018-05|title=Oncogenic activation of JAK3-STAT signaling confers clinical sensitivity to PRN371, a novel selective and potent JAK3 inhibitor, in natural killer/T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/29434279|journal=Leukemia|volume=32|issue=5|pages=1147–1156|doi=10.1038/s41375-017-0004-x|issn=1476-5551|pmc=5940653|pmid=29434279}}</ref>
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@@ Line 253: / Line 256: @@
 |''TP53''<ref name=":2" />
 |Tumor suppressor gene
-|24-62%<ref>{{Cite journal|last=Quintanilla-Martinez|first=L.|last2=Kremer|first2=M.|last3=Keller|first3=G.|last4=Nathrath|first4=M.|last5=Gamboa-Dominguez|first5=A.|last6=Meneses|first6=A.|last7=Luna-Contreras|first7=L.|last8=Cabras|first8=A.|last9=Hoefler|first9=H.|date=2001-12|title=p53 Mutations in nasal natural killer/T-cell lymphoma from Mexico: association with large cell morphology and advanced disease|url=https://pubmed.ncbi.nlm.nih.gov/11733360|journal=The American Journal of Pathology|volume=159|issue=6|pages=2095–2105|doi=10.1016/S0002-9440(10)63061-1|issn=0002-9440|pmc=1850589|pmid=11733360}}</ref><ref>{{Cite journal|last=Hongyo|first=Tadashi|last2=Hoshida|first2=Yoshihiko|last3=Nakatsuka|first3=Shin-Ichi|last4=Syaifudin|first4=Mukh|last5=Kojya|first5=Shizuo|last6=Yang|first6=Woo-Ick|last7=Min|first7=Yoo-Hong|last8=Chan|first8=Heekyung|last9=Kim|first9=Chan Hwan|date=2005-02|title=p53, K-ras, c-kit and beta-catenin gene mutations in sinonasal NK/T-cell lymphoma in Korea and Japan|url=https://pubmed.ncbi.nlm.nih.gov/15643509|journal=Oncology Reports|volume=13|issue=2|pages=265–271|issn=1021-335X|pmid=15643509}}</ref>
+|24-62%<ref>{{Cite journal|last=Quintanilla-Martinez|first=L.|last2=Kremer|first2=M.|last3=Keller|first3=G.|last4=Nathrath|first4=M.|last5=Gamboa-Dominguez|first5=A.|last6=Meneses|first6=A.|last7=Luna-Contreras|first7=L.|last8=Cabras|first8=A.|last9=Hoefler|first9=H.|date=2001-12|title=p53 Mutations in nasal natural killer/T-cell lymphoma from Mexico: association with large cell morphology and advanced disease|url=https://pubmed.ncbi.nlm.nih.gov/11733360|journal=The American Journal of Pathology|volume=159|issue=6|pages=2095–2105|doi=10.1016/S0002-9440(10)63061-1|issn=0002-9440|pmc=1850589|pmid=11733360}}</ref><ref name=":8">{{Cite journal|last=Hongyo|first=Tadashi|last2=Hoshida|first2=Yoshihiko|last3=Nakatsuka|first3=Shin-Ichi|last4=Syaifudin|first4=Mukh|last5=Kojya|first5=Shizuo|last6=Yang|first6=Woo-Ick|last7=Min|first7=Yoo-Hong|last8=Chan|first8=Heekyung|last9=Kim|first9=Chan Hwan|date=2005-02|title=p53, K-ras, c-kit and beta-catenin gene mutations in sinonasal NK/T-cell lymphoma in Korea and Japan|url=https://pubmed.ncbi.nlm.nih.gov/15643509|journal=Oncology Reports|volume=13|issue=2|pages=265–271|issn=1021-335X|pmid=15643509}}</ref>
+|
+|
+|
+|
+|
+|
+|-
+|''MGA''<ref name=":2" />
+|
+|
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@@ Line 261: / Line 274: @@
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 |-
-|''MGA''
+|''PRDM1''<ref name=":9">{{Cite journal|last=Huang|first=Yenlin|last2=de Leval|first2=Laurence|last3=Gaulard|first3=Philippe|date=2013-03|title=Molecular underpinning of extranodal NK/T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/23768641|journal=Best Practice & Research. Clinical Haematology|volume=26|issue=1|pages=57–74|doi=10.1016/j.beha.2013.04.006|issn=1532-1924|pmid=23768641}}</ref><ref name=":7" /><ref>{{Cite journal|last=Küçük|first=Can|last2=Iqbal|first2=Javeed|last3=Hu|first3=Xiaozhou|last4=Gaulard|first4=Phillip|last5=De Leval|first5=Laurence|last6=Srivastava|first6=Gopesh|last7=Au|first7=Wing Yan|last8=McKeithan|first8=Timothy W.|last9=Chan|first9=Wing C.|date=2011-12-13|title=PRDM1 is a tumor suppressor gene in natural killer cell malignancies|url=https://pubmed.ncbi.nlm.nih.gov/22143801|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=108|issue=50|pages=20119–20124|doi=10.1073/pnas.1115128108|issn=1091-6490|pmc=3250125|pmid=22143801}}</ref>
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-|PRDM1
+|''ATG5''<ref name=":9" />
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-|ATG5
+|''AIM1''<ref name=":9" />
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-|AIM1
+|''FOXO3''<ref name=":9" /><ref name=":7" />
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-|FOXO3
+|''HACE1''<ref name=":9" /><ref>{{Cite journal|last=Huang|first=Yenlin|last2=de Reyniès|first2=Aurélien|last3=de Leval|first3=Laurence|last4=Ghazi|first4=Bouchra|last5=Martin-Garcia|first5=Nadine|last6=Travert|first6=Marion|last7=Bosq|first7=Jacques|last8=Brière|first8=Josette|last9=Petit|first9=Barbara|date=2010-02-11|title=Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type|url=https://pubmed.ncbi.nlm.nih.gov/19965620|journal=Blood|volume=115|issue=6|pages=1226–1237|doi=10.1182/blood-2009-05-221275|issn=1528-0020|pmc=2826234|pmid=19965620}}</ref>
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-|HACE1
+|''RAS''<ref name=":8" />
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-|RAS
+|''MYC''
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 ==Epigenomic Alterations==
-A 2015 study by Lee'', et al'' reported that histone modification-related genes accounted for 38.2% of 34 ENKTL samples by next-generation sequencing<ref name=":4" />.
+A 2015 study by Lu, et al uncovered recurrent mutations in the RNA helicase gene ''DDX3X'' and other epigenetic modifiers including ''KMT2D (MLL2), ARID1A, EP300'', and ''ASXL3''<ref name=":2" />.
-Similarly, a 2015 study by Lu, et al uncovered recurrent mutations in the RNA helicase gene DDX3X and other epigenetic modifiers including KMT2D (MLL2), ARID1A, EP300, and ASXL3<ref name=":2" />.
-* ''DDX3X'' (RNA helicase)
+Similarly, a 2015 study by Lee'', et al'' reported that histone modification-related genes, including ''BCOR'' and ''KMT2D (MLL2),'' accounted for 38.2% of 34 ENKTL samples by next-generation sequencing<ref name=":4" />.
-* ''KMT2D/MLL2''
-* ''ARID1A''
-* ''EP300''
-* ''ASXL3''
-* ''BCOR''
 ==Genes and Main Pathways Involved==
@@ Line 371: / Line 377: @@
 |-
 !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
+|-
+|''JAK3'', ''STAT3'', and ''STAT5B''; Activating mutations
+|JAK/STAT pathway
+|Increased cell growth and proliferation
+|-
+|
+|
+|
 |-
 |EXAMPLE: BRAF and MAP2K1; Activating mutations

Difference between revisions of "HAEM5:Extranodal NK/T-cell lymphoma"

Revision as of 16:07, 21 June 2024

Primary Author(s)*

Contents

Cancer Category / Type

Cancer Sub-Classification / Subtype

Definition / Description of Disease

Synonyms / Terminology

Epidemiology / Prevalence

Clinical Features

Sites of Involvement

Morphologic Features

Immunophenotype

Chromosomal Rearrangements (Gene Fusions)

Individual Region Genomic Gain / Loss / LOH

Characteristic Chromosomal Patterns

Gene Mutations (SNV / INDEL)

Epigenomic Alterations

Genes and Main Pathways Involved

Genetic Diagnostic Testing Methods

Familial Forms

Additional Information

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