Compendium of Cancer Genome Aberrations

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

[unchecked revision][unchecked revision]
← Older editNewer edit →
VisualWikitext
No edit summary
No edit summary
Line 27: Line 27:


*'''EATL accounts for 3% of peripheral T-cell lymphomas and 66% of all primary intestinal T-cell lymphomas reported in Europe and the USA'''
*'''EATL accounts for 3% of peripheral T-cell lymphomas and 66% of all primary intestinal T-cell lymphomas reported in Europe and the USA'''
*'''Enteropathy-associated T-cell lymphoma (EATL) is an aggressive intestinal T-cell lymphoma more common in patients with celiac disease'''<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>
*'''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).''' <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>
*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 62: Line 62:
*Hemophagocytosis
*Hemophagocytosis
|}
|}
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




Line 115: Line 120:
cytotoxic granule-associated markers (TIA1, granzyme B, perforin)
cytotoxic granule-associated markers (TIA1, granzyme B, perforin)
|-
|-
|Negative (frequent)||CD4, CD8, CD5, CD56, TCR
|Negative (frequent)||CD4, CD8, CD5, CD56, TCR, EBER
|-
|-
|Ki-67||high
|Ki-67||high
|}
|}
Immunophenotype of intraepithelial lymphocytes (IEL):<ref name=":7" /><ref name=":0" />
*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<sup>_</sup>, 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 [[HAEM5:Monomorphic epitheliotropic intestinal T-cell lymphoma|MEITL]]; not seen in [[HAEM5:Indolent T-cell lymphoma of the gastrointestinal tract|indolent T-cell LPD of GI tract]]
****CD30+ indicates progression to EATL




Line 215: Line 233:
!Notes
!Notes
|-
|-
|9
|gain
|9q
|9q
|gain
|q22-34
|EXAMPLE
|
 
|
chr7:1- 159,335,973 [hg38]
|
|EXAMPLE
 
chr7
|Yes
|Yes
|No
|EXAMPLE
|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).
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
|16q
|loss
|12.1
|EXAMPLE
|
 
|
chr8:1-145,138,636 [hg38]
|
|EXAMPLE
 
chr8
|No
|No
|No
|EXAMPLE
|EXAMPLE


Common recurrent secondary finding for t(8;21) (add reference).
Common recurrent secondary finding for t(8;21) (add reference).
|-
|-
|1
|gain
|1q
|1q
|gain
|q22-44
|
|
|
|
|
|
Line 254: Line 264:
|
|
|-
|-
|5
|gain
|5q
|5q
|gain
|q33.3–34
|
|
|
|
|
|
Line 263: Line 273:
|
|
|-
|-
|9
|LOH
|9p
|9p
|LOH
|p21
|
|
|
|
|
|
Line 272: Line 282:
|
|
|-
|-
|7
|gain
|7q
|7q
|gain
|q11.21-q36.1
|
|
|
|
|
|
Line 281: Line 291:
|
|
|-
|-
|8
|loss
|8p
|8p
|loss
|p23.3-p11.21
|
|
|
|
|
|
Line 290: Line 300:
|
|
|-
|-
|8
|gain
|8q
|8q
|gain
|q24
|
|
|
|
|
|
Line 299: Line 309:
|
|
|-
|-
|13
|loss
|13q
|13q
|loss
|
|
|
|
|
Line 308: Line 318:
|
|
|-
|-
|17
|loss
|17p
|17p
|loss
|p12-13.2
|
|
|
|
|
|
Retrieved from "https://test.ccga.io/index.php/HAEM5:Enteropathy-associated_T-cell_lymphoma"