Compendium of Cancer Genome Aberrations

HAEM5:Enteropathy-associated T-cell lymphoma: Difference between revisions

[checked revision][checked revision]
← Older edit
VisualWikitext
No edit summary
No edit summary
 
(8 intermediate revisions by 3 users not shown)
Line 1: Line 1:
{{DISPLAYTITLE:Enteropathy-associated T-cell lymphoma}}
{{DISPLAYTITLE:Enteropathy-associated T-cell lymphoma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


Line 14: Line 13:
*FNU Monika, MBBS
*FNU Monika, MBBS
*Andrew Siref, MD
*Andrew Siref, MD
__TOC__


==WHO Classification of Disease==
==WHO Classification of Disease==
Line 38: Line 36:
|}
|}


==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
 
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|Type I enteropathy-associated T-cell lymphoma
|}
|}


Line 151: Line 135:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!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'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
Line 386: Line 370:
!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
Line 430: Line 414:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
Line 475: Line 459:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration<ref name=":4" /><ref>{{Cite journal|last=Sh|first=Swerdlow|last2=Jr|first2=Cook|date=2020|title=As the world turns, evolving lymphoma classifications-past, present and future|url=https://pubmed.ncbi.nlm.nih.gov/31493426/|language=en|pmid=31493426}}</ref>!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''<ref name=":4" />!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene; Genetic Alteration<ref name=":4" /><ref>{{Cite journal|last=Sh|first=Swerdlow|last2=Jr|first2=Cook|date=2020|title=As the world turns, evolving lymphoma classifications-past, present and future|url=https://pubmed.ncbi.nlm.nih.gov/31493426/|language=en|pmid=31493426}}</ref>!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC /  TCGA / Other)<ref name=":4" />!!Concomitant Mutations!!Mutually Exclusive Mutations
!'''Diagnostic Significance (Yes, No or Unknown)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
Line 523: Line 507:
|JAK1
|JAK1
|Oncogene
|Oncogene
|23% '''48%'''
|23% 48%
|
|
|
|
Line 543: Line 527:
|STAT3
|STAT3
|oncogene
|oncogene
|16%, '''38%'''
|16%, 38%
|
|
|
|
Line 561: Line 545:
|
|
|-
|-
|'''SOCS3'''
|SOCS3
|'''TSG'''
|TSG
|'''8%'''
|8%
|
|
|
|
Line 725: Line 709:


*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).
*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. <u>33579790</u>
*Most of the EATL cases develop through an intermediate step of RCDII, however it can also arise de novo in patients with celiac disease.<ref name=":13">{{Cite journal|last=Cording|first=Sascha|last2=Lhermitte|first2=Ludovic|last3=Malamut|first3=Georgia|last4=Berrabah|first4=Sofia|last5=Trinquand|first5=Amélie|last6=Guegan|first6=Nicolas|last7=Villarese|first7=Patrick|last8=Kaltenbach|first8=Sophie|last9=Meresse|first9=Bertrand|date=2022-03|title=Oncogenetic landscape of lymphomagenesis in coeliac disease|url=https://pubmed.ncbi.nlm.nih.gov/33579790|journal=Gut|volume=71|issue=3|pages=497–508|doi=10.1136/gutjnl-2020-322935|issn=1468-3288|pmc=8862029|pmid=33579790}}</ref>
*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 <ref name=":5">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: <nowiki>https://tumourclassification.iarc.who.int/chaptercontent/63/224</nowiki> </ref>, { 33707055 }.
*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 <ref name=":5">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: <nowiki>https://tumourclassification.iarc.who.int/chaptercontent/63/224</nowiki> </ref><ref>{{Cite journal|last=Soderquist|first=Craig R.|last2=Bhagat|first2=Govind|date=2021|title=Cellular and molecular bases of refractory celiac disease|url=https://pubmed.ncbi.nlm.nih.gov/33707055|journal=International Review of Cell and Molecular Biology|volume=358|pages=207–240|doi=10.1016/bs.ircmb.2020.12.001|issn=1937-6448|pmid=33707055}}</ref>.
*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<ref name=":5" />
*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<ref name=":5" />
*Risk factors include homozygosity for HLA-DQ2 and advanced age<ref name=":5" />
*Risk factors include homozygosity for HLA-DQ2 and advanced age<ref name=":5" />
Line 734: Line 718:
*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)<ref name=":6">{{Cite journal|last=Wh|first=Verbeek|last2=Jm|first2=Van De Water|last3=A|first3=Al-Toma|last4=Jj|first4=Oudejans|last5=Cj|first5=Mulder|last6=Vm|first6=Coupé|date=2008|title=Incidence of enteropathy--associated T-cell lymphoma: a nation-wide study of a population-based registry in The Netherlands|url=https://pubmed.ncbi.nlm.nih.gov/18618372/|language=en|pmid=18618372}}</ref><ref name=":1">{{Cite journal|last=Aj|first=Ferreri|last2=Pl|first2=Zinzani|last3=S|first3=Govi|last4=Sa|first4=Pileri|date=2011|title=Enteropathy-associated T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/20655757/|language=en|pmid=20655757}}</ref><ref name=":2">{{Cite journal|last=J|first=Delabie|last2=H|first2=Holte|last3=Jm|first3=Vose|last4=F|first4=Ullrich|last5=Es|first5=Jaffe|last6=Kj|first6=Savage|last7=Jm|first7=Connors|last8=L|first8=Rimsza|last9=Nl|first9=Harris|date=2011|title=Enteropathy-associated T-cell lymphoma: clinical and histological findings from the international peripheral T-cell lymphoma project|url=https://pubmed.ncbi.nlm.nih.gov/21566094/|language=en|pmid=21566094}}</ref><ref>{{Cite journal|last=A|first=Rubio-Tapia|last2=Ja|first2=Murray|date=2010|title=Classification and management of refractory coeliac disease|url=https://pubmed.ncbi.nlm.nih.gov/20332526/|language=en|doi=10.1136/gut.2009.195131|pmc=PMC2861306|pmid=20332526}}</ref><ref>{{Cite journal|last=G|first=Malamut|last2=P|first2=Afchain|last3=V|first3=Verkarre|last4=T|first4=Lecomte|last5=A|first5=Amiot|last6=D|first6=Damotte|last7=Y|first7=Bouhnik|last8=Jf|first8=Colombel|last9=Jc|first9=Delchier|date=2009|title=Presentation and long-term follow-up of refractory celiac disease: comparison of type I with type II|url=https://pubmed.ncbi.nlm.nih.gov/19014942/|language=en|pmid=19014942}}</ref>
*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)<ref name=":6">{{Cite journal|last=Wh|first=Verbeek|last2=Jm|first2=Van De Water|last3=A|first3=Al-Toma|last4=Jj|first4=Oudejans|last5=Cj|first5=Mulder|last6=Vm|first6=Coupé|date=2008|title=Incidence of enteropathy--associated T-cell lymphoma: a nation-wide study of a population-based registry in The Netherlands|url=https://pubmed.ncbi.nlm.nih.gov/18618372/|language=en|pmid=18618372}}</ref><ref name=":1">{{Cite journal|last=Aj|first=Ferreri|last2=Pl|first2=Zinzani|last3=S|first3=Govi|last4=Sa|first4=Pileri|date=2011|title=Enteropathy-associated T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/20655757/|language=en|pmid=20655757}}</ref><ref name=":2">{{Cite journal|last=J|first=Delabie|last2=H|first2=Holte|last3=Jm|first3=Vose|last4=F|first4=Ullrich|last5=Es|first5=Jaffe|last6=Kj|first6=Savage|last7=Jm|first7=Connors|last8=L|first8=Rimsza|last9=Nl|first9=Harris|date=2011|title=Enteropathy-associated T-cell lymphoma: clinical and histological findings from the international peripheral T-cell lymphoma project|url=https://pubmed.ncbi.nlm.nih.gov/21566094/|language=en|pmid=21566094}}</ref><ref>{{Cite journal|last=A|first=Rubio-Tapia|last2=Ja|first2=Murray|date=2010|title=Classification and management of refractory coeliac disease|url=https://pubmed.ncbi.nlm.nih.gov/20332526/|language=en|doi=10.1136/gut.2009.195131|pmc=PMC2861306|pmid=20332526}}</ref><ref>{{Cite journal|last=G|first=Malamut|last2=P|first2=Afchain|last3=V|first3=Verkarre|last4=T|first4=Lecomte|last5=A|first5=Amiot|last6=D|first6=Damotte|last7=Y|first7=Bouhnik|last8=Jf|first8=Colombel|last9=Jc|first9=Delchier|date=2009|title=Presentation and long-term follow-up of refractory celiac disease: comparison of type I with type II|url=https://pubmed.ncbi.nlm.nih.gov/19014942/|language=en|pmid=19014942}}</ref>
*EATL accounts for 3% of peripheral T-cell lymphomas and represents 66% of all primary intestinal T-cell lymphomas<ref name=":5" />
*EATL accounts for 3% of peripheral T-cell lymphomas and represents 66% of all primary intestinal T-cell lymphomas<ref name=":5" />
*More common in regions with a high prevalence of CD, particularly Europe (0.05–0.14 cases per 100 000 population) { 15825131 ; 20197551 ; 18618372 } and the USA (0.016 cases per 100 000 population)
*More common in regions with a high prevalence of CD, particularly Europe (0.05–0.14 cases per 100 000 population)<ref>{{Cite journal|last=Catassi|first=Carlo|last2=Bearzi|first2=Italo|last3=Holmes|first3=Geoffrey K. T.|date=2005-04|title=Association of celiac disease and intestinal lymphomas and other cancers|url=https://pubmed.ncbi.nlm.nih.gov/15825131|journal=Gastroenterology|volume=128|issue=4 Suppl 1|pages=S79–86|doi=10.1053/j.gastro.2005.02.027|issn=0016-5085|pmid=15825131}}</ref><ref>{{Cite journal|last=Sieniawski|first=Michal|last2=Angamuthu|first2=Nithia|last3=Boyd|first3=Kathryn|last4=Chasty|first4=Richard|last5=Davies|first5=John|last6=Forsyth|first6=Peter|last7=Jack|first7=Fergus|last8=Lyons|first8=Simon|last9=Mounter|first9=Philip|date=2010-05-06|title=Evaluation of enteropathy-associated T-cell lymphoma comparing standard therapies with a novel regimen including autologous stem cell transplantation|url=https://pubmed.ncbi.nlm.nih.gov/20197551|journal=Blood|volume=115|issue=18|pages=3664–3670|doi=10.1182/blood-2009-07-231324|issn=1528-0020|pmid=20197551}}</ref><ref name=":6" /> and the USA (0.016 cases per 100 000 population)
*Extremely rare in Asia due to low population frequency of celiac HLA risk alleles<ref name=":6" /><ref name=":1" /><ref name=":2" />
*Extremely rare in Asia due to low population frequency of celiac HLA risk alleles<ref name=":6" /><ref name=":1" /><ref name=":2" />
*> 60% of all cases in intestinal T- cell lymphomas<ref name=":6" /><ref name=":1" /><ref name=":2" />
*> 60% of all cases in intestinal T- cell lymphomas<ref name=":6" /><ref name=":1" /><ref name=":2" />
Line 746: Line 730:


*CD can be diagnosed at the time of EATL diagnosis<ref name=":5" />
*CD can be diagnosed at the time of EATL diagnosis<ref name=":5" />
*Patients with RCD can sometimes present with small-intestinal ulceration (ulcerative jejunitis) { 9250161 ; 10381521 }.
*Patients with RCD can sometimes present with small-intestinal ulceration (ulcerative jejunitis)<ref>{{Cite journal|last=Ashton-Key|first=M.|last2=Diss|first2=T. C.|last3=Pan|first3=L.|last4=Du|first4=M. Q.|last5=Isaacson|first5=P. G.|date=1997-08|title=Molecular analysis of T-cell clonality in ulcerative jejunitis and enteropathy-associated T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/9250161|journal=The American Journal of Pathology|volume=151|issue=2|pages=493–498|issn=0002-9440|pmc=1857986|pmid=9250161}}</ref><ref>{{Cite journal|last=Bagdi|first=E.|last2=Diss|first2=T. C.|last3=Munson|first3=P.|last4=Isaacson|first4=P. G.|date=1999-07-01|title=Mucosal intra-epithelial lymphocytes in enteropathy-associated T-cell lymphoma, ulcerative jejunitis, and refractory celiac disease constitute a neoplastic population|url=https://pubmed.ncbi.nlm.nih.gov/10381521|journal=Blood|volume=94|issue=1|pages=260–264|issn=0006-4971|pmid=10381521}}</ref>.


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:
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:
Line 760: Line 744:


*Small intestine (predominantly jejunum and ileum > large intestine and stomach)<ref name=":1" />
*Small intestine (predominantly jejunum and ileum > large intestine and stomach)<ref name=":1" />
*Dissemination to extra gastrointestinal sites: mesenteric and abdominal lymph nodes > bone marrow, lung, liver or skin { 8583077 ; 23313469 ; 21566094 }.
*Dissemination to extra gastrointestinal sites: mesenteric and abdominal lymph nodes > bone marrow, lung, liver or skin<ref name=":2" /><ref>{{Cite journal|last=Egan|first=L. J.|last2=Walsh|first2=S. V.|last3=Stevens|first3=F. M.|last4=Connolly|first4=C. E.|last5=Egan|first5=E. L.|last6=McCarthy|first6=C. F.|date=1995-09|title=Celiac-associated lymphoma. A single institution experience of 30 cases in the combination chemotherapy era|url=https://pubmed.ncbi.nlm.nih.gov/8583077|journal=Journal of Clinical Gastroenterology|volume=21|issue=2|pages=123–129|issn=0192-0790|pmid=8583077}}</ref><ref name=":14">{{Cite journal|last=Malamut|first=Georgia|last2=Chandesris|first2=Olivia|last3=Verkarre|first3=Virginie|last4=Meresse|first4=Bertrand|last5=Callens|first5=Céline|last6=Macintyre|first6=Elizabeth|last7=Bouhnik|first7=Yoram|last8=Gornet|first8=Jean-Marc|last9=Allez|first9=Matthieu|date=2013-05|title=Enteropathy associated T cell lymphoma in celiac disease: a large retrospective study|url=https://pubmed.ncbi.nlm.nih.gov/23313469|journal=Digestive and Liver Disease: Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|volume=45|issue=5|pages=377–384|doi=10.1016/j.dld.2012.12.001|issn=1878-3562|pmc=7185558|pmid=23313469}}</ref>.
*Metastases involve intra-abdominal node > bone marrow > lung > liver > skin<ref name=":1" />
*Metastases involve intra-abdominal node > bone marrow > lung > liver > skin<ref name=":1" />
*CNS (rare)<ref name=":1" />
*CNS (rare)<ref name=":1" />
Line 782: Line 766:
The <u>immunophenotype</u> of this disease is detailed below:
The <u>immunophenotype</u> of this disease is detailed below:


* Approximately 25% of EATLs (primarily de novo EATL) are CD8+, and rare cases express TCRγδ [23313469, 26462278]
*Approximately 25% of EATLs (primarily de novo EATL) are CD8+, and rare cases express TCRγδ<ref name=":14" /><ref>{{Cite journal|last=van Wanrooij|first=R. L. J.|last2=de Jong|first2=D.|last3=Langerak|first3=A. W.|last4=Ylstra|first4=B.|last5=van Essen|first5=H. F.|last6=Heideman|first6=D. a. M.|last7=Bontkes|first7=H. J.|last8=Mulder|first8=C. J. J.|last9=Bouma|first9=G.|date=2015|title=Novel variant of EATL evolving from mucosal γδ-T-cells in a patient with type I RCD|url=https://pubmed.ncbi.nlm.nih.gov/26462278|journal=BMJ open gastroenterology|volume=2|issue=1|pages=e000026|doi=10.1136/bmjgast-2014-000026|issn=2054-4774|pmc=4599158|pmid=26462278}}</ref>
*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. <u>33579790</u>
*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.<ref name=":13" />
* The most common immunophenotypic profile in EATL is given below:
*The most common immunophenotypic profile in EATL is given below:


Positive (universal) - CD3, CD7
Positive (universal) - CD3, CD7
Line 831: Line 815:


<br />
<br />
<references />


==Notes==
==Notes==
Retrieved from "https://test.ccga.io/index.php/HAEM5:Enteropathy-associated_T-cell_lymphoma"