Difference between revisions of "HAEM5:Monomorphic epitheliotropic intestinal T-cell lymphoma"
| [unchecked revision] | [unchecked revision] |
Bailey.Glen (talk | contribs) (Created page with "{{DISPLAYTITLE:Monomorphic epitheliotropic intestinal T-cell lymphoma}} Haematolymphoid Tumours (5th ed.) {{Under Construction}} <blockquote clas...") |
Bailey.Glen (talk | contribs) |
||
| Line 4: | Line 4: | ||
{{Under Construction}} | {{Under Construction}} | ||
| − | <blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-11- | + | <blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-11-30. The original page can be found at [[HAEM4:Monomorphic Epitheliotropic Intestinal T-cell Lymphoma]]. |
}}</blockquote> | }}</blockquote> | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
| Line 12: | Line 12: | ||
__TOC__ | __TOC__ | ||
| − | ==Cancer Category/Type== | + | ==Cancer Category / Type== |
* [[Mature T- and NK-cell Neoplasms|Mature T- and NK-cell lymphoma]] | * [[Mature T- and NK-cell Neoplasms|Mature T- and NK-cell lymphoma]] | ||
| Line 176: | Line 176: | ||
</blockquote> | </blockquote> | ||
| − | ==Individual Region Genomic Gain/Loss/LOH== | + | ==Individual Region Genomic Gain / Loss / LOH== |
Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span> | Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span> | ||
| Line 328: | Line 328: | ||
</blockquote> | </blockquote> | ||
| − | ==Gene Mutations (SNV/INDEL)== | + | ==Gene Mutations (SNV / INDEL)== |
Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span> | Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span> | ||
Revision as of 15:54, 30 November 2023
Haematolymphoid Tumours (5th ed.)
 | This page is under construction |
editHAEM5 Conversion NotesThis page was converted to the new template on 2023-11-30. The original page can be found at HAEM4:Monomorphic Epitheliotropic Intestinal T-cell Lymphoma.
Primary Author(s)*
Derick Okwan-Duodu MD, PhD; Sumire Kitahara, MD
Cancer Category / Type
Cancer Sub-Classification / Subtype
Definition / Description of Disease
- Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a primary intestinal T-cell lymphoma derived from intraepithelial lymphocytes that, unlike enteropathy-associated T-cell lymphoma, is not clearly associated with celiac disease
Synonyms / Terminology
- Formerly and no longer referred to as type II enteropathy-associated T-cell lymphoma (EATL)
Epidemiology / Prevalence
- More prevalent in Asian and Hispanic/indigenous population
- < 1 per 1,000,000
Clinical Features
Put your text here and fill in the table (Instruction: Can include references in the table)
| Signs and Symptoms | EXAMPLE Asymptomatic (incidental finding on complete blood counts)
EXAMPLE B-symptoms (weight loss, fever, night sweats) EXAMPLE Fatigue EXAMPLE Lymphadenopathy (uncommon) |
| Laboratory Findings | EXAMPLE Cytopenias
EXAMPLE Lymphocytosis (low level) |
editv4:Clinical FeaturesThe content below was from the old template. Please incorporate above.
- Abdominal pain
- Weight loss
- Diarrhea
- Long-standing history of malabsorption is atypical
Sites of Involvement
- Small Intestine (jejunum > ileum) > large intestine > stomach
Morphologic Features
- Monomorphic small- to medium-sized neoplastic cells
- Uniformly round and regular nuclei
- Finely dispersed chromatin
- Inconspicuous nucleoli
- Abundant rim of pale cytoplasm
Immunophenotype
Put your text here and fill in the table (Instruction: Can include references in the table)
| Finding | Marker |
|---|---|
| Positive (universal) | EXAMPLE CD1 |
| Positive (subset) | EXAMPLE CD2 |
| Negative (universal) | EXAMPLE CD3 |
| Negative (subset) | EXAMPLE CD4 |
editv4:ImmunophenotypeThe content below was from the old template. Please incorporate above.Postive: CD3, CD8, CD56, TCR gamma > TCR beta, TIA1, CD20 in 20% of cases, MATK in >80% of neoplastic cells helps distinguish from EATL, SYK [1] (distinguishes from EATL), NKP46
Variably positive between cases: granzyme B, perforin
Negative: CD5, EBV/EBER
INCORPORATE INTO TABLE
Chromosomal Rearrangements (Gene Fusions)
Put your text here and fill in the table
| 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 |
|---|---|---|---|---|---|---|---|
| EXAMPLE t(9;22)(q34;q11.2) | EXAMPLE 3'ABL1 / 5'BCR | EXAMPLE der(22) | EXAMPLE 20% (COSMIC)
EXAMPLE 30% (add reference) |
Yes | No | Yes | 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). |
editv4:Chromosomal Rearrangements (Gene Fusions)The content below was from the old template. Please incorporate above.
- N/A
- No consistent gene fusion reported
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
- Because of non-specific findings, careful clinical history, along with immunophenotype and morphology, is necessary to arrive at diagnosis
IHC Significance Note SYK Possible role in diagnosis (inclusion) Strongly diagnostic[1] CD56 Possible role in diagnosis (inclusion) Contrasts with majority of EATL EBV Possible role in diagnosis (exclusion) Strongly associated with extranodal NK/T- cell lymphoma, but negative in MEITL MATK Possible role in diagnosis (inclusion) If present in >80% of tumor cells, helps distinguish from EATL Gamma delta TCR Possible role in diagnosis (inclusion) Much more frequent in MEITL compared to EATL (silent or alpha beta TCR)
Individual Region Genomic Gain / Loss / LOH
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 |
|---|---|---|---|---|---|---|---|
| EXAMPLE
7 |
EXAMPLE Loss | EXAMPLE
chr7:1- 159,335,973 [hg38] |
EXAMPLE
chr7 |
Yes | Yes | 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 reference). |
| 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). |
editv4:Genomic Gain/Loss/LOHThe content below was from the old template. Please incorporate above.
In contrast to EATL, gains at 1q32.2-41 and 5q34-35.5 are reported less commonly. However, one study from Japan[5] described a series a non-celiac associated intestinal T-cell lymphoma with MEITL immunophenotype that demonstrated these gains at a frequency comparable to Western EATL, suggesting more overlap between Western EATL and Asian MEITL than previously thought, requiring additional investigation to further study these observations.
Chromosome Number Gain/Loss/Amp/LOH Region Genes Prevalence 8q gain q24 MYC 25-38% 9q gain q22.31;q33.2; q34.3-13 PPP6C, ASS1,CARD9 75% 1q gain q32.2-44 CKS1B 50% 5q gain q34 38% 8p gain p11.23 63% 4p gain p15.1 63% 7q gain q34 63% 12p gain p13.31 ETV6 7p loss p14.1 MAFK 75% 8p loss p23.3-p11.21 38% 16q loss 50%
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Characteristic Chromosomal Patterns
Put your text here (EXAMPLE PATTERNS: 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)
| Chromosomal Pattern | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|
| EXAMPLE
Co-deletion of 1p and 18q |
Yes | No | No | EXAMPLE:
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). |
editv4:Characteristic Chromosomal Aberrations / PatternsThe content below was from the old template. Please incorporate above.
- No pathognomonic aberrations/patterns described, but multiple genomic gains and losses are frequent
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 | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|---|
| 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.
editv4:Gene Mutations (SNV/INDEL)The content below was from the old template. Please incorporate above.
Gene* Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other) SETD2 mutation and/or deletion Tumor Suppressor LOF frameshift indels or nonsense mutation 43% -93% STAT5B Oncogene GOF up to 63% JAK3 Oncogene GOF 46% *Specific mutations in these genes can be found elsewhere (COSMIC, cBioPortal)
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Epigenomic Alterations
- Defective H3K36 trimethylation[8]
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 |
|---|---|---|
| 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 |
editv4:Genes and Main Pathways InvolvedThe content below was from the old template. Please incorporate above.
- JAK-STAT (most common)
- RAS
- P53
- TERT
- BBX
Include these in the standard table.
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Genetic Diagnostic Testing Methods
- Careful clinicopathologic correlation: lack of prior history of celiac disease or histologic features of celiac disease if no prior history known or documented
- Immunohistochemical evaluation (see Immunophenotype above and Clinical Significance below)
- Some immunostains not routinely available at commercial labs (e.g. SYK, MATK)
Familial Forms
- Not described
Additional Information
None
Links
References
(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference.)
- ↑ 1.0 1.1 G, Mutzbauer; et al. (2018). "SYK expression in monomorphic epitheliotropic intestinal T-cell lymphoma". PMID 29052597.
- ↑ P, Nijeboer; et al. (2015). "Treatment response in enteropathy associated T-cell lymphoma; survival in a large multicenter cohort". PMID 25716069.
- ↑ "Enteropathy-Associated T-Cell Lymphoma". Definitions. Qeios. 2020-02-07.
- ↑ C, Gentille; et al. (2017). "Use of PEG-asparaginase in monomorphic epitheliotropic intestinal T-cell lymphoma, a disease with diagnostic and therapeutic challenges". doi:10.3332/ecancer.2017.771. PMC 5636209. PMID 29062389.CS1 maint: PMC format (link)
- ↑ 5.0 5.1 S, Tomita; et al. (2015). "Genomic and immunohistochemical profiles of enteropathy-associated T-cell lymphoma in Japan". PMID 26226842.
- ↑ Rj, Deleeuw; et al. (2007). "Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes". PMID 17484883.
- ↑ 7.0 7.1 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)
- ↑ 8.0 8.1 A, Roberti; et al. (2016). "Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations". doi:10.1038/ncomms12602. PMC 5023950. PMID 27600764.CS1 maint: PMC format (link)
- ↑ Ml, Nairismägi; et al. (2016). "JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma". doi:10.1038/leu.2016.13. PMC 4895162. PMID 26854024.CS1 maint: PMC format (link)
- ↑ 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)
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: “Monomorphic epitheliotropic intestinal T-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 11/30/2023, https://ccga.io/index.php/HAEM5:Monomorphic_epitheliotropic_intestinal_T-cell_lymphoma.