Difference between revisions of "HAEM5:Monomorphic epitheliotropic intestinal T-cell lymphoma"
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| − | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}} | + | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote> |
*Abdominal pain | *Abdominal pain | ||
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*Long-standing history of malabsorption is atypical | *Long-standing history of malabsorption is atypical | ||
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| + | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
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==Sites of Involvement== | ==Sites of Involvement== | ||
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| − | <blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}} | + | <blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote> |
'''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''' <ref name=":1" /> (distinguishes from EATL), NKP46 | '''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''' <ref name=":1" /> (distinguishes from EATL), NKP46 | ||
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'''INCORPORATE INTO TABLE''' | '''INCORPORATE INTO TABLE''' | ||
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| + | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
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==Chromosomal Rearrangements (Gene Fusions)== | ==Chromosomal Rearrangements (Gene Fusions)== | ||
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*N/A | *N/A | ||
*'''No consistent gene fusion reported''' | *'''No consistent gene fusion reported''' | ||
| + | <blockquote class="blockedit"> | ||
| + | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
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* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
* Characteristic Chromosomal Patterns | * Characteristic Chromosomal Patterns | ||
| − | * Gene Mutations (SNV/INDEL)}} | + | * Gene Mutations (SNV/INDEL)}}</blockquote> |
*'''Diagnosis''' | *'''Diagnosis''' | ||
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**PEG-asparaginase has been considered as option<ref>{{Cite journal|last=C|first=Gentille|last2=Q|first2=Qin|last3=A|first3=Barbieri|last4=Ps|first4=Ravi|last5=S|first5=Iyer|date=2017|title=Use of PEG-asparaginase in monomorphic epitheliotropic intestinal T-cell lymphoma, a disease with diagnostic and therapeutic challenges|url=https://pubmed.ncbi.nlm.nih.gov/29062389/|language=en|doi=10.3332/ecancer.2017.771|pmc=PMC5636209|pmid=29062389}}</ref> | **PEG-asparaginase has been considered as option<ref>{{Cite journal|last=C|first=Gentille|last2=Q|first2=Qin|last3=A|first3=Barbieri|last4=Ps|first4=Ravi|last5=S|first5=Iyer|date=2017|title=Use of PEG-asparaginase in monomorphic epitheliotropic intestinal T-cell lymphoma, a disease with diagnostic and therapeutic challenges|url=https://pubmed.ncbi.nlm.nih.gov/29062389/|language=en|doi=10.3332/ecancer.2017.771|pmc=PMC5636209|pmid=29062389}}</ref> | ||
| + | <blockquote class="blockedit"> | ||
| + | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
| + | ---- | ||
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==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
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|} | |} | ||
| − | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | + | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| − | <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref>{{Cite journal|last=Rj|first=Deleeuw|last2=A|first2=Zettl|last3=E|first3=Klinker|last4=E|first4=Haralambieva|last5=M|first5=Trottier|last6=R|first6=Chari|last7=Y|first7=Ge|last8=Rd|first8=Gascoyne|last9=A|first9=Chott|date=2007|title=Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes|url=https://pubmed.ncbi.nlm.nih.gov/17484883/|language=en|pmid=17484883}}</ref><ref name=":3">{{Cite journal|last=S|first=Tomita|last2=Yy|first2=Kikuti|last3=J|first3=Carreras|last4=M|first4=Kojima|last5=K|first5=Ando|last6=H|first6=Takasaki|last7=R|first7=Sakai|last8=K|first8=Takata|last9=T|first9=Yoshino|date=2015|title=Genomic and immunohistochemical profiles of enteropathy-associated T-cell lymphoma in Japan|url=https://pubmed.ncbi.nlm.nih.gov/26226842/|language=en|pmid=26226842}}</ref></blockquote> | + | <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref>{{Cite journal|last=Rj|first=Deleeuw|last2=A|first2=Zettl|last3=E|first3=Klinker|last4=E|first4=Haralambieva|last5=M|first5=Trottier|last6=R|first6=Chari|last7=Y|first7=Ge|last8=Rd|first8=Gascoyne|last9=A|first9=Chott|date=2007|title=Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes|url=https://pubmed.ncbi.nlm.nih.gov/17484883/|language=en|pmid=17484883}}</ref><ref name=":3">{{Cite journal|last=S|first=Tomita|last2=Yy|first2=Kikuti|last3=J|first3=Carreras|last4=M|first4=Kojima|last5=K|first5=Ando|last6=H|first6=Takasaki|last7=R|first7=Sakai|last8=K|first8=Takata|last9=T|first9=Yoshino|date=2015|title=Genomic and immunohistochemical profiles of enteropathy-associated T-cell lymphoma in Japan|url=https://pubmed.ncbi.nlm.nih.gov/26226842/|language=en|pmid=26226842}}</ref><blockquote class="blockedit"> |
| + | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
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==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
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|} | |} | ||
| − | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | + | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> |
*No pathognomonic aberrations/patterns described, but multiple genomic gains and losses are frequent | *No pathognomonic aberrations/patterns described, but multiple genomic gains and losses are frequent | ||
| + | <blockquote class="blockedit"> | ||
| + | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
| + | ---- | ||
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==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
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| − | <blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}} | + | <blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| − | <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref name=":0">{{Cite journal|last=Ab|first=Moffitt|last2=Sl|first2=Ondrejka|last3=M|first3=McKinney|last4=Re|first4=Rempel|last5=Jr|first5=Goodlad|last6=Ch|first6=Teh|last7=S|first7=Leppa|last8=S|first8=Mannisto|last9=Pe|first9=Kovanen|date=2017|title=Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2|url=https://pubmed.ncbi.nlm.nih.gov/28424246/|language=en|doi=10.1084/jem.20160894|pmc=PMC5413324|pmid=28424246}}</ref><ref name=":2">{{Cite journal|last=A|first=Roberti|last2=Mp|first2=Dobay|last3=B|first3=Bisig|last4=D|first4=Vallois|last5=C|first5=Boéchat|last6=E|first6=Lanitis|last7=B|first7=Bouchindhomme|last8=Mc|first8=Parrens|last9=C|first9=Bossard|date=2016|title=Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations|url=https://pubmed.ncbi.nlm.nih.gov/27600764/|language=en|doi=10.1038/ncomms12602|pmc=PMC5023950|pmid=27600764}}</ref><ref>{{Cite journal|last=Ml|first=Nairismägi|last2=J|first2=Tan|last3=Jq|first3=Lim|last4=S|first4=Nagarajan|last5=Cc|first5=Ng|last6=V|first6=Rajasegaran|last7=D|first7=Huang|last8=Wk|first8=Lim|last9=Y|first9=Laurensia|date=2016|title=JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/26854024/|language=en|doi=10.1038/leu.2016.13|pmc=PMC4895162|pmid=26854024}}</ref></blockquote> | + | <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":0">{{Cite journal|last=Ab|first=Moffitt|last2=Sl|first2=Ondrejka|last3=M|first3=McKinney|last4=Re|first4=Rempel|last5=Jr|first5=Goodlad|last6=Ch|first6=Teh|last7=S|first7=Leppa|last8=S|first8=Mannisto|last9=Pe|first9=Kovanen|date=2017|title=Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2|url=https://pubmed.ncbi.nlm.nih.gov/28424246/|language=en|doi=10.1084/jem.20160894|pmc=PMC5413324|pmid=28424246}}</ref><ref name=":2">{{Cite journal|last=A|first=Roberti|last2=Mp|first2=Dobay|last3=B|first3=Bisig|last4=D|first4=Vallois|last5=C|first5=Boéchat|last6=E|first6=Lanitis|last7=B|first7=Bouchindhomme|last8=Mc|first8=Parrens|last9=C|first9=Bossard|date=2016|title=Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations|url=https://pubmed.ncbi.nlm.nih.gov/27600764/|language=en|doi=10.1038/ncomms12602|pmc=PMC5023950|pmid=27600764}}</ref><ref>{{Cite journal|last=Ml|first=Nairismägi|last2=J|first2=Tan|last3=Jq|first3=Lim|last4=S|first4=Nagarajan|last5=Cc|first5=Ng|last6=V|first6=Rajasegaran|last7=D|first7=Huang|last8=Wk|first8=Lim|last9=Y|first9=Laurensia|date=2016|title=JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/26854024/|language=en|doi=10.1038/leu.2016.13|pmc=PMC4895162|pmid=26854024}}</ref><blockquote class="blockedit"> |
| + | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
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==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
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| − | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}} | + | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| − | <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref name=":0" /><ref>{{Cite journal|last=A|first=Nicolae|last2=L|first2=Xi|last3=Th|first3=Pham|last4=Ta|first4=Pham|last5=W|first5=Navarro|last6=Hg|first6=Meeker|last7=S|first7=Pittaluga|last8=Es|first8=Jaffe|last9=M|first9=Raffeld|date=2016|title=Mutations in the JAK/STAT and RAS signaling pathways are common in intestinal T-cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/27389054/|language=en|doi=10.1038/leu.2016.178|pmc=PMC5093023|pmid=27389054}}</ref></blockquote> | + | <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":0" /><ref>{{Cite journal|last=A|first=Nicolae|last2=L|first2=Xi|last3=Th|first3=Pham|last4=Ta|first4=Pham|last5=W|first5=Navarro|last6=Hg|first6=Meeker|last7=S|first7=Pittaluga|last8=Es|first8=Jaffe|last9=M|first9=Raffeld|date=2016|title=Mutations in the JAK/STAT and RAS signaling pathways are common in intestinal T-cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/27389054/|language=en|doi=10.1038/leu.2016.178|pmc=PMC5093023|pmid=27389054}}</ref><blockquote class="blockedit"> |
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
Revision as of 13:25, 10 February 2025
Haematolymphoid Tumours (WHO Classification, 5th ed.)
 | This page is under construction |
editContent Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition ClassificationThis page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Monomorphic Epitheliotropic Intestinal T-cell Lymphoma.
(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); to add (or move) a row or column to a table, click within the table and select the > symbol that appears to be given options. 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)*
Derick Okwan-Duodu MD, PhD; Sumire Kitahara, 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) | Monomorphic epitheliotropic intestinal T-cell lymphoma |
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. Do not delete 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
End of V4 Section
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. Do not delete 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
End of V4 Section
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
End of V4 Section
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) |
- Prognosis
- Poor (median survival of 7 months)
- Resection, chemotherapy combined with autologous stem cell transplantation improves survival [2]
- Therapeutic Implications
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 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 |
|---|---|---|---|---|---|---|---|
| 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.
End of V4 Section
End of V4 Section
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. Do not delete table.)
| 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
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 and common as well as 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. Do not delete table.)
| 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.
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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. Do not delete 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.
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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
HAEM4:Intestinal T-cell Lymphoma
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 02/10/2025, https://ccga.io/index.php/HAEM5:Monomorphic_epitheliotropic_intestinal_T-cell_lymphoma.