Enteropathy-associated T-cell lymphoma

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Haematolymphoid Tumours (WHO Classification, 5th ed.)

editContent Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification
This page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Enteropathy-Associated T-cell Lymphoma.

(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). 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); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. 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)*

  • FNU Monika, MBBS
  • Andrew Siref, MD

WHO Classification of Disease

Structure Disease
Book Haematolymphoid Tumours (5th ed.)
Category T-cell and NK-cell lymphoid proliferations and lymphomas
Family Mature T-cell and NK-cell neoplasms
Type Intestinal T-cell and NK-cell lymphoid proliferations and lymphomas
Subtype(s) Enteropathy-associated T-cell lymphoma

WHO Essential and Desirable Genetic Diagnostic Criteria

(Instructions: The table will have the diagnostic criteria from the WHO book autocompleted; remove any non-genetics related criteria. If applicable, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.)

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)*
Other Classification

*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.

Related Terminology

(Instructions: The table will have the related terminology from the WHO autocompleted.)

Acceptable
Not Recommended

Gene Rearrangements

Put your text here and fill in the table (Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Driver Gene Fusion(s) and Common Partner Genes Molecular Pathogenesis Typical Chromosomal Alteration(s) Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease) Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE: ABL1 EXAMPLE: BCR::ABL1 EXAMPLE: The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1. EXAMPLE: t(9;22)(q34;q11.2) EXAMPLE: Common (CML) EXAMPLE: D, P, T EXAMPLE: Yes (WHO, NCCN) EXAMPLE:

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).

EXAMPLE: CIC EXAMPLE: CIC::DUX4 EXAMPLE: Typically, the last exon of CIC is fused to DUX4. The fusion breakpoint in CIC is usually intra-exonic and removes an inhibitory sequence, upregulating PEA3 genes downstream of CIC including ETV1, ETV4, and ETV5. EXAMPLE: t(4;19)(q25;q13) EXAMPLE: Common (CIC-rearranged sarcoma) EXAMPLE: D EXAMPLE:

DUX4 has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).

EXAMPLE: ALK EXAMPLE: ELM4::ALK


Other fusion partners include KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1

EXAMPLE: Fusions result in constitutive activation of the ALK tyrosine kinase. The most common ALK fusion is EML4::ALK, with breakpoints in intron 19 of ALK. At the transcript level, a variable (5’) partner gene is fused to 3’ ALK at exon 20. Rarely, ALK fusions contain exon 19 due to breakpoints in intron 18. EXAMPLE: N/A EXAMPLE: Rare (Lung adenocarcinoma) EXAMPLE: T EXAMPLE:

Both balanced and unbalanced forms are observed by FISH (add references).

EXAMPLE: ABL1 EXAMPLE: N/A EXAMPLE: Intragenic deletion of exons 2–7 in EGFR removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. EXAMPLE: N/A EXAMPLE: Recurrent (IDH-wildtype Glioblastoma) EXAMPLE: D, P, T
editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)
  • Diagnosis
    • No specific recurrent genetic abnormality that is diagnostic for EATL
      • Gain of 1q and 5q more frequent in EATL, whereas 8q24 (MYC) gain is more frequent in MEITL[1][2]
      • SETD2 mutations are common in both EATL (32%)[3] and MEITL (91%)[4]
  • Prognosis
    • In one study, >3 chromosomal imbalance was associated with worse prognosis[2]
  • Therapeutic Implications
    • Recurrent mutations in epigenetic machinery genes - epigenetic modifying drugs may be effective[5]
    • Mutations involved in JAK-STAT signaling pathway - inhibitors of this pathway may be effective
    • Suboptimal response to chemotherapy due to malnutrition, intestinal complications and toxicity and malnutrition
    • CD30+ disease may benefit from brentuximab vedotin (adcetris) as second line with or without stem cell transplant[6][7]
    • No FDA-approved targeted therapies currently available[8]
End of V4 Section

Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.)

Chr # Gain, Loss, Amp, LOH Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size] Relevant Gene(s) Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

chr7

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE: No EXAMPLE:

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).

EXAMPLE:

8

EXAMPLE: Gain EXAMPLE:

chr8

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE:

Common recurrent secondary finding for t(8;21) (add references).

EXAMPLE:

17

EXAMPLE: Amp EXAMPLE:

17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]

EXAMPLE:

ERBB2

EXAMPLE: D, P, T EXAMPLE:

Amplification of ERBB2 is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.


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. Do not delete table.)

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
9 gain 9q q22-34 EXAMPLE:

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

16 loss 16q 12.1 EXAMPLE:

Common recurrent secondary finding for t(8;21) (add reference).

1 gain 1q q22-44
5 gain 5q q33.3–34
9 LOH 9p p21
7 gain 7q q11.21-q36.1
8 loss 8p p23.3-p11.21
8 gain 8q q24
13 loss 13q
17 loss 17p p12-13.2
editv4:Genomic Gain/Loss/LOH
The content below was from the old template. Please incorporate above.
Chromosome Number[1][9][2][3][10] Gain/Loss/Amp/LOH Region Genes Prevalence
9q gain q22-34 C-ABL1, NOTCH-1, VAV2, CARD9 40-71%
16q loss 12.1 CLYD 23%
1q gain q22-44 CKS1B 30%
5q gain q33.3–34 UBLCP1, IRGM-1 17%-30%
9p LOH p21 CDKN2A/B (p16) 36%; possibly more common in (5 of 9) cases with large cells[11]
7q gain q11.21-q36.1 NSUN5 24%
8p loss p23.3-p11.21 20-30%
8q gain q24 MYC 25-27%
13q loss RB 24%
17p loss p12-13.2 TP53 23%
  • Most copy number alterations are large arm level alterations; no focal gene level alterations reach statistical significance[3]


End of V4 Section

Characteristic Chromosomal or Other Global Mutational Patterns

Put your text here and fill in the table (Instructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Chromosomal Pattern Molecular Pathogenesis Prevalence -

Common >20%, Recurrent 5-20% or Rare <5% (Disease)

Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:

Co-deletion of 1p and 18q

EXAMPLE: See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). EXAMPLE: Common (Oligodendroglioma) EXAMPLE: D, P
EXAMPLE:

Microsatellite instability - hypermutated

EXAMPLE: Common (Endometrial carcinoma) EXAMPLE: P, T
editv4:Characteristic Chromosomal Aberrations / Patterns
The content below was from the old template. Please incorporate above.
  • HLA-DQ2 (HLA-DQA1*0501 and DQB1*02) homozygosity - increased (at least 5-fold) risk for RCD and EATL[12]
  • HLA-DQB1*02 genotype correlated with 5q gain [1]
End of V4 Section

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 or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries 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. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Gene Genetic Alteration Tumor Suppressor Gene, Oncogene, Other Prevalence -

Common >20%, Recurrent 5-20% or Rare <5% (Disease)

Diagnostic, Prognostic, and Therapeutic Significance - D, P, T   Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:EGFR


EXAMPLE: Exon 18-21 activating mutations EXAMPLE: Oncogene EXAMPLE: Common (lung cancer) EXAMPLE: T EXAMPLE: Yes (NCCN) EXAMPLE: Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
EXAMPLE: TP53; Variable LOF mutations


EXAMPLE: Variable LOF mutations EXAMPLE: Tumor Supressor Gene EXAMPLE: Common (breast cancer) EXAMPLE: P EXAMPLE: >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
EXAMPLE: BRAF; Activating mutations EXAMPLE: Activating mutations EXAMPLE: Oncogene EXAMPLE: Common (melanoma) EXAMPLE: T

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


Gene; Genetic Alteration[3][13] Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other)[3] Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
SETD2 TSG 32%
YLPM1 TSG 22%
TET2 TSG 14%
STAT5B Oncogene 29%
JAK1 Oncogene 23% 48%
JAK3 Oncogene 23%
STAT3 oncogene 16%, 38%
SOCS1 TSG 7%
SOCS3 TSG 8%
NRAS Oncogene 10%
KRAS Oncogene 6%
TP53 TSG 10%
BCL11B TSG 13%
BRIP1 TSG 16%
TERT Oncogene 17%
BBX Cell cycle transcription factor 16%
DAPK3 Apoptosis 10%
PRDM1 Interferon-related transcription factor 9%

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.

*The specific mutations in these genes may be found elsewhere (COSMIC, cBioPortal)

  • PRDM1 and DAPK3, followed by STAT3 and STAT5B, are the most common mutually exclusive gene pairs[3]

Epigenomic Alterations

  • SETD2 is a histone H3 lysine 36 methyltransferase (forms H3K37me3)[3]
    • Altered (mostly by loss-of-function mutations) in ~32% of EATL
    • Results in global H3K36 hypomethylation

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Can include references in the table. Do not delete table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
SETD2, TET2, YLPM1; loss of function mutations Gene regulation EXAMPLE: Increased cell growth and proliferation
JAK1, JAK3, STAT3, STAT5B, SOCS1 JAK-STAT pathway EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
The content below was from the old template. Please incorporate above.
  • Chromatin modifying genes: SETD2, TET2, YLPM1; loss of function mutations[3][14][15][16]
  • JAK-STAT pathway: JAK1, JAK3, STAT3, STAT5B, SOCS1; mutated drivers in this pathway tended to be mutually exclusive[3][14][15][16]
  • RAS/MAPK signaling pathway[3][14][15][16]
  • IL-15 deregulation and disruption of intestinal immune homeostasis[3][14][15][16]
  • Overexpression of genes involved in Interferon-γ signaling[3]
End of V4 Section

Genetic Diagnostic Testing Methods

  • No specific recurrent genetic abnormalities that are diagnostic for EATL[17][18]
  • Clonality can be confirmed by T-cell receptor gene rearrangement studies[17][18]
    • Intraepithelial lymphocytes in type 2 refractory celiac disease show similar gene rearrangement size as EATL[17][18]
  • Chromosomal microarrays may identify genetic abnormalities frequently associated with EATL[17][18]
  • Next generation sequencing may identify genetic abnormalities frequently associated with EATL[17][18]
  • Morphology and immunophenotyping
    • Cut-off value of 20% aberrant intraepithelial lymphocytes (cytoplasmic CD3+, surface CD3−, CD7+, CD103+, CD8−, CD4−) to distinguish from refractory celiac disease[19]

Familial Forms

  • While there is a genetic predisposition of those with HLA-DQ2 or HLA-DQ8 to develop celiac disease and EATL is a complication of celiac disease, familial forms of EATL are not described.
    • HLA-DQ2 (HLA-DQA1*0501 and DQB1*02) homozygosity - increased (at least 5-fold) risk for RCD and EATL[20]
    • HLA-DQB1*02 genotype correlated with 5q gain [21]

Additional Information

This disease is defined/characterized as detailed below:

  • Enteropathy-associated T-cell lymphoma (EATL) is an aggressive intestinal T-cell lymphoma more common in patients with celiac disease, especially type II refractory celiac disease (RCDII).
  • Most of the EATL cases develop through an intermediate step of RCDII, however it can also arise de novo in patients with celiac disease.[22]
  • RCDII can be defined as failure to respond to a strict gluten-free diet for at least 12 months and is associated with clonal expansion of immunophenotypically an aberrant IELs [23][24].
  • Celiac disease may be diagnosed prior to EATL diagnosis in 20-73% of cases, or both entities may be diagnosed concomitantly in 10-58% of the cases[23]
  • Risk factors include homozygosity for HLA-DQ2 and advanced age[23]

The epidemiology/prevalence of this disease is detailed below:

  • 0.5-1 in 1 million general population (2-5% in patients with celiac disease, 60-80% in patients with refractory celiac disease type 2)[25][26][27][28][29]
  • EATL accounts for 3% of peripheral T-cell lymphomas and represents 66% of all primary intestinal T-cell lymphomas[23]
  • More common in regions with a high prevalence of CD, particularly Europe (0.05–0.14 cases per 100 000 population)[30][31][25] and the USA (0.016 cases per 100 000 population)
  • Extremely rare in Asia due to low population frequency of celiac HLA risk alleles[25][26][27]
  • > 60% of all cases in intestinal T- cell lymphomas[25][26][27]
  • M:F 1.04:1 to 2.8:1[25][26][27]
  • 6th-7th decade of life[25][26][27]
  • Mostly Caucasian (> 90%)[25][26][27]

The clinical features of this disease are detailed below:

Many of the below features are indistinguishable from the presentation of celiac disease, which may delay the diagnosis of EATL. Persistent symptoms following gluten-free diet is highly suggestive of EATL.[26]

  • CD can be diagnosed at the time of EATL diagnosis[23]
  • Patients with RCD can sometimes present with small-intestinal ulceration (ulcerative jejunitis)[32][33].

If there is no prior diagnosis of celiac disease and lymphoma is the initial presentation, the following findings can point towards celiac disease associated EATL:

  • Anti-tissue transglutaminase-2 antibodies or Anti-endomysial antibodies
  • Dermatitis herpetiformis

Signs and symptoms - Abdominal pain; Weight loss; Gluten-insensitive diarrhea/malabsorption; Bowel obstruction or perforation (50% cases)

Laboratory findings - Anemia; Hypoalbuminemia; Hemophagocytosis

The sites of involvement of this disease are detailed below:

  • Small intestine (predominantly jejunum and ileum > large intestine and stomach)[26]
  • Dissemination to extra gastrointestinal sites: mesenteric and abdominal lymph nodes > bone marrow, lung, liver or skin[27][34][35].
  • Metastases involve intra-abdominal node > bone marrow > lung > liver > skin[26]
  • CNS (rare)[26]

The morphologic features of this disease are detailed below:

  • Pleomorphic medium to large sized neoplastic lymphoid cells with immunoblastic or anaplastic morphology.[27][23]
  • Angulated vesicular nuclei, prominent nucleoli, and a pale-staining cytoplasm [https://doi.org/10.3390/diagnostics13162629]
  • Extensive inflammatory background of histiocytes, eosinophils, small lymphocytes, and plasma cells [23]
  • Adjacent mucosa often displays the histological features of active CD, including increased IEL infiltration, crypt hyperplasia, and villous atrophy [27][23] [https://doi.org/10.3390/diagnostics13162629]
  • Angioinvasion and angiodestruction are commonly seen [23]
  • Neighborhood mucosa characterized by villous atrophy and crypt hyperplasia (non-malignant areas of celiac disease)[27]
  • Round or angulated vesicular nuclei[27]
  • Prominent nucleoli[27]
  • Moderate-abundant pale cytoplasm[27]
  • Extensive admixture of inflammatory cells (eosinophils, histiocytes)[27]
  • Angiocentric and angioinvasive features with extensive necrosis[27]

The immunophenotype of this disease is detailed below:

  • Approximately 25% of EATLs (primarily de novo EATL) are CD8+, and rare cases express TCRγδ[35][36]
  • Ki-67 is very low and CD30 is negative in RCDII, their appearance is useful to monitor RCDII progression to EATL and to indicate the need for chemotherapeutic regimens targeting dividing cells, a therapeutic option that is inefficient and even dangerous in RCDII.[22]
  • The most common immunophenotypic profile in EATL is given below:

Positive (universal) - CD3, CD7

Positive (frequent) - CD30 (harbinger of transformation to EATL from RCD2), NKP46 (not seen in IEL of CD or RCD1), CD103, cytotoxic granule-associated markers (TIA1, granzyme B, perforin)

Negative (frequent) - CD4, CD8, CD5, CD56, TCR, EBER

KI67 – high

RCD Type 1 RCD Type 2 EATL
Histopathology Identical to uncomplicated CD Moderate/ severe villous atrophy with atypical IELs Infiltration of medium to large sized pleomorphic IELs
IEL Immunophenotype Like CD; sCD3+, CD8+

Immunophenotype of intraepithelial lymphocytes (IEL):[37][1]

  • Varies depending on background type 1 or type 2 refractory celiac disease (RCD).
    • Type 1 (RCD1):
      • Milder symptoms with high 5-year survival with low risk of EATL development
      • Flow cytometry: sCD3+, CD8+, CD5+
    • Type 2 (RCD2):
      • Severe symptoms with protein-losing enteropathy leads to malnourishment (BMI < 18); low 5-year survival with increased risk of EATL
      • Flow cytometry: sCD3_, CD8-, CD5-
      • IHC:
        • NKP46: significantly more positive in RCD2 IEL than normal IEL in CD and RCD1; not specific for RCD2 or EATL, can be seen in MEITL; not seen in indolent T-cell LPD of GI tract
        • CD30+ indicates progression to EATL

Links

References

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  1. ↑ Jump up to: 1.0 1.1 1.2 1.3 Deleeuw, Ronald J.; et al. (2007-05). "Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes". Gastroenterology. 132 (5): 1902–1911. doi:10.1053/j.gastro.2007.03.036. ISSN 0016-5085. PMID 17484883. Check date values in: |date= (help)
  2. ↑ Jump up to: 2.0 2.1 2.2 A, Zettl; et al. (2002). "Chromosomal gains at 9q characterize enteropathy-type T-cell lymphoma". doi:10.1016/S0002-9440(10)64441-0. PMC 1850794. PMID 12414511.CS1 maint: PMC format (link)
  3. ↑ Jump up to: 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 Ab, Moffitt; et al. (2017). "Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2". doi:10.1084/jem.20160894. PMC 5413324. PMID 28424246.CS1 maint: PMC format (link)
  4. ↑ Roberti, Annalisa; et al. (09 07, 2016). "Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations". Nature Communications. 7: 12602. doi:10.1038/ncomms12602. ISSN 2041-1723. PMC 5023950. PMID 27600764. Check date values in: |date= (help)
  5. ↑ Zhang, Ping; et al. (2020-11-07). "Epigenetic alterations and advancement of treatment in peripheral T-cell lymphoma". Clinical Epigenetics. 12 (1): 169. doi:10.1186/s13148-020-00962-x. ISSN 1868-7083. PMC PMC7648940 Check |pmc= value (help). PMID 33160401 Check |pmid= value (help).CS1 maint: PMC format (link)
  6. ↑ Sm, Horwitz; et al. (2014). "Objective responses in relapsed T-cell lymphomas with single-agent brentuximab vedotin". doi:10.1182/blood-2013-12-542142. PMC 4425442. PMID 24652992.CS1 maint: PMC format (link)
  7. ↑ Fanale, Michelle A.; et al. (2018-05-10). "Five-year outcomes for frontline brentuximab vedotin with CHP for CD30-expressing peripheral T-cell lymphomas". Blood. 131 (19): 2120–2124. doi:10.1182/blood-2017-12-821009. ISSN 0006-4971. PMC 5946765. PMID 29507077.
  8. ↑ National Comprehensive Cancer Network (January 2021). "NCCN Clinical Practice Guidelines in Oncology: Peripheral T-cell Lymphomas" (PDF).CS1 maint: display-authors (link)
  9. ↑ Ak, Baumgärtner; et al. (2003). "High frequency of genetic aberrations in enteropathy-type T-cell lymphoma". PMID 14563952.
  10. ↑ Tomita, Sakura; et al. (2015-10). "Genomic and immunohistochemical profiles of enteropathy-associated T-cell lymphoma in Japan". Modern Pathology. 28 (10): 1286–1296. doi:10.1038/modpathol.2015.85. ISSN 1530-0285. Check date values in: |date= (help)
  11. ↑ Obermann, E. C.; et al. (2004-02). "Loss of heterozygosity at chromosome 9p21 is a frequent finding in enteropathy-type T-cell lymphoma". The Journal of Pathology. 202 (2): 252–262. doi:10.1002/path.1506. ISSN 0022-3417. PMID 14743509. Check date values in: |date= (help)
  12. ↑ A, Al-Toma; et al. (2006). "Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma". PMID 16527694.
  13. ↑ Sh, Swerdlow; et al. (2020). "As the world turns, evolving lymphoma classifications-past, present and future". PMID 31493426.
  14. ↑ Jump up to: 14.0 14.1 14.2 14.3 A, Nicolae; et al. (2016). "Mutations in the JAK/STAT and RAS signaling pathways are common in intestinal T-cell lymphomas". doi:10.1038/leu.2016.178. PMC 5093023. PMID 27389054.CS1 maint: PMC format (link)
  15. ↑ Jump up to: 15.0 15.1 15.2 15.3 G, Malamut; et al. (2010). "IL-15 triggers an antiapoptotic pathway in human intraepithelial lymphocytes that is a potential new target in celiac disease-associated inflammation and lymphomagenesis". doi:10.1172/JCI41344. PMC 2877946. PMID 20440074.CS1 maint: PMC format (link)
  16. ↑ Jump up to: 16.0 16.1 16.2 16.3 Mention, Jean-Jacques; et al. (2003-09). "Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease". Gastroenterology. 125 (3): 730–745. doi:10.1016/s0016-5085(03)01047-3. ISSN 0016-5085. PMID 12949719. Check date values in: |date= (help)
  17. ↑ Jump up to: 17.0 17.1 17.2 17.3 17.4 A, Di Sabatino; et al. (2012). "How I treat enteropathy-associated T-cell lymphoma". PMID 22271451.
  18. ↑ Jump up to: 18.0 18.1 18.2 18.3 18.4 Sj, Van Weyenberg; et al. (2011). "MR enteroclysis in refractory celiac disease: proposal and validation of a severity scoring system". PMID 21330559.
  19. ↑ Wh, Verbeek; et al. (2008). "Flow cytometric determination of aberrant intra-epithelial lymphocytes predicts T-cell lymphoma development more accurately than T-cell clonality analysis in Refractory Celiac Disease". PMID 18024205.
  20. ↑ A, Al-Toma; et al. (2006). "Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma". PMID 16527694.
  21. ↑ Deleeuw, Ronald J.; et al. (2007-05). "Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes". Gastroenterology. 132 (5): 1902–1911. doi:10.1053/j.gastro.2007.03.036. ISSN 0016-5085. PMID 17484883. Check date values in: |date= (help)
  22. ↑ Jump up to: 22.0 22.1 Cording, Sascha; et al. (2022-03). "Oncogenetic landscape of lymphomagenesis in coeliac disease". Gut. 71 (3): 497–508. doi:10.1136/gutjnl-2020-322935. ISSN 1468-3288. PMC 8862029 Check |pmc= value (help). PMID 33579790 Check |pmid= value (help). Check date values in: |date= (help)
  23. ↑ Jump up to: 23.0 23.1 23.2 23.3 23.4 23.5 23.6 23.7 23.8 Govind Bhagat, et al. Enteropathy-associated T-cell lymphoma. In: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2024 [cited 2024 July 2]. (WHO classification of tumors series, 5th ed.; vol. 11). Available from: https://tumourclassification.iarc.who.int/chaptercontent/63/224
  24. ↑ Soderquist, Craig R.; et al. (2021). "Cellular and molecular bases of refractory celiac disease". International Review of Cell and Molecular Biology. 358: 207–240. doi:10.1016/bs.ircmb.2020.12.001. ISSN 1937-6448. PMID 33707055 Check |pmid= value (help).
  25. ↑ Jump up to: 25.0 25.1 25.2 25.3 25.4 25.5 25.6 Wh, Verbeek; et al. (2008). "Incidence of enteropathy--associated T-cell lymphoma: a nation-wide study of a population-based registry in The Netherlands". PMID 18618372.
  26. ↑ Jump up to: 26.0 26.1 26.2 26.3 26.4 26.5 26.6 26.7 26.8 26.9 Aj, Ferreri; et al. (2011). "Enteropathy-associated T-cell lymphoma". PMID 20655757.
  27. ↑ Jump up to: 27.00 27.01 27.02 27.03 27.04 27.05 27.06 27.07 27.08 27.09 27.10 27.11 27.12 27.13 27.14 J, Delabie; et al. (2011). "Enteropathy-associated T-cell lymphoma: clinical and histological findings from the international peripheral T-cell lymphoma project". PMID 21566094.
  28. ↑ A, Rubio-Tapia; et al. (2010). "Classification and management of refractory coeliac disease". doi:10.1136/gut.2009.195131. PMC 2861306. PMID 20332526.CS1 maint: PMC format (link)
  29. ↑ G, Malamut; et al. (2009). "Presentation and long-term follow-up of refractory celiac disease: comparison of type I with type II". PMID 19014942.
  30. ↑ Catassi, Carlo; et al. (2005-04). "Association of celiac disease and intestinal lymphomas and other cancers". Gastroenterology. 128 (4 Suppl 1): S79–86. doi:10.1053/j.gastro.2005.02.027. ISSN 0016-5085. PMID 15825131. Check date values in: |date= (help)
  31. ↑ Sieniawski, Michal; et al. (2010-05-06). "Evaluation of enteropathy-associated T-cell lymphoma comparing standard therapies with a novel regimen including autologous stem cell transplantation". Blood. 115 (18): 3664–3670. doi:10.1182/blood-2009-07-231324. ISSN 1528-0020. PMID 20197551.
  32. ↑ Ashton-Key, M.; et al. (1997-08). "Molecular analysis of T-cell clonality in ulcerative jejunitis and enteropathy-associated T-cell lymphoma". The American Journal of Pathology. 151 (2): 493–498. ISSN 0002-9440. PMC 1857986. PMID 9250161. Check date values in: |date= (help)
  33. ↑ Bagdi, E.; et al. (1999-07-01). "Mucosal intra-epithelial lymphocytes in enteropathy-associated T-cell lymphoma, ulcerative jejunitis, and refractory celiac disease constitute a neoplastic population". Blood. 94 (1): 260–264. ISSN 0006-4971. PMID 10381521.
  34. ↑ Egan, L. J.; et al. (1995-09). "Celiac-associated lymphoma. A single institution experience of 30 cases in the combination chemotherapy era". Journal of Clinical Gastroenterology. 21 (2): 123–129. ISSN 0192-0790. PMID 8583077. Check date values in: |date= (help)
  35. ↑ Jump up to: 35.0 35.1 Malamut, Georgia; et al. (2013-05). "Enteropathy associated T cell lymphoma in celiac disease: a large retrospective study". Digestive and Liver Disease: Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 45 (5): 377–384. doi:10.1016/j.dld.2012.12.001. ISSN 1878-3562. PMC 7185558 Check |pmc= value (help). PMID 23313469. Check date values in: |date= (help)
  36. ↑ van Wanrooij, R. L. J.; et al. (2015). "Novel variant of EATL evolving from mucosal γδ-T-cells in a patient with type I RCD". BMJ open gastroenterology. 2 (1): e000026. doi:10.1136/bmjgast-2014-000026. ISSN 2054-4774. PMC 4599158. PMID 26462278.
  37. ↑ P, Domizio; et al. (1993). "Primary lymphoma of the small intestine. A clinicopathological study of 119 cases". PMID 8470758.


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