Compendium of Cancer Genome Aberrations

HAEM5:Adult T-cell leukaemia/lymphoma: Difference between revisions

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|No
|No
|Highlights immune-evasion axis and immune checkpoint biology, but PD-1 blockade has shown harm and induced rapid progression in ATLL<ref>{{Cite journal|last=Rauch|first=Daniel A.|last2=Conlon|first2=Kevin C.|last3=Janakiram|first3=Murali|last4=Brammer|first4=Jonathan E.|last5=Harding|first5=John C.|last6=Ye|first6=B. Hilda|last7=Zang|first7=Xingxing|last8=Ren|first8=Xiaoxin|last9=Olson|first9=Sydney|date=2019-10-24|title=Rapid progression of adult T-cell leukemia/lymphoma as tumor-infiltrating Tregs after PD-1 blockade|url=https://pubmed.ncbi.nlm.nih.gov/31467059|journal=Blood|volume=134|issue=17|pages=1406–1414|doi=10.1182/blood.2019002038|issn=1528-0020|pmc=6839957|pmid=31467059}}</ref>
|Highlights immune-evasion axis and immune checkpoint biology, but PD-1 blockade has shown harm and induced rapid progression in ATLL<ref>{{Cite journal|last=Rauch|first=Daniel A.|last2=Conlon|first2=Kevin C.|last3=Janakiram|first3=Murali|last4=Brammer|first4=Jonathan E.|last5=Harding|first5=John C.|last6=Ye|first6=B. Hilda|last7=Zang|first7=Xingxing|last8=Ren|first8=Xiaoxin|last9=Olson|first9=Sydney|date=2019-10-24|title=Rapid progression of adult T-cell leukemia/lymphoma as tumor-infiltrating Tregs after PD-1 blockade|url=https://pubmed.ncbi.nlm.nih.gov/31467059|journal=Blood|volume=134|issue=17|pages=1406–1414|doi=10.1182/blood.2019002038|issn=1528-0020|pmc=6839957|pmid=31467059}}</ref>
|-
|''REL (c-Rel)''
|3′ truncations (no partner gene; gain-of-function)<ref>{{Cite journal|last=Kogure|first=Yasunori|last2=Kameda|first2=Takuro|last3=Koya|first3=Junji|last4=Yoshimitsu|first4=Makoto|last5=Nosaka|first5=Kisato|last6=Yasunaga|first6=Jun-ichirou|last7=Imaizumi|first7=Yoshitaka|last8=Watanabe|first8=Mizuki|last9=Saito|first9=Yuki|date=2022-02-17|title=Whole-genome landscape of adult T-cell leukemia/lymphoma|url=https://ashpublications.org/blood/article/139/7/967/477456/Whole-genome-landscape-of-adult-T-cell-leukemia|journal=Blood|language=en|volume=139|issue=7|pages=967–982|doi=10.1182/blood.2021013568|issn=0006-4971|pmc=8854674|pmid=34695199}}</ref>
|C-terminal truncation removes negative-regulatory regions → transcription upregulation/activation of REL → NF-κB pathway activation
|'''2p16.1''' 3′-end truncating rearrangements
|Recurrent (~13%)
|
|No
|
|-
|-
|''CD28''
|''CD28''
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|No
|No
|Potential for CTLA4 blockade as treatment when CD28 fusions are present
|Potential for CTLA4 blockade as treatment when CD28 fusions are present
|-
|''REL (c-Rel)''
|3′ truncations (no partner gene; gain-of-function)<ref>{{Cite journal|last=Kogure|first=Yasunori|last2=Kameda|first2=Takuro|last3=Koya|first3=Junji|last4=Yoshimitsu|first4=Makoto|last5=Nosaka|first5=Kisato|last6=Yasunaga|first6=Jun-ichirou|last7=Imaizumi|first7=Yoshitaka|last8=Watanabe|first8=Mizuki|last9=Saito|first9=Yuki|date=2022-02-17|title=Whole-genome landscape of adult T-cell leukemia/lymphoma|url=https://ashpublications.org/blood/article/139/7/967/477456/Whole-genome-landscape-of-adult-T-cell-leukemia|journal=Blood|language=en|volume=139|issue=7|pages=967–982|doi=10.1182/blood.2021013568|issn=0006-4971|pmc=8854674|pmid=34695199}}</ref>
|C-terminal truncation removes negative-regulatory regions → transcription upregulation/activation of REL → NF-κB pathway activation
|'''2p16.1''' 3′-end truncating rearrangements
|Recurrent (~13%)
|
|No
|
|-
|-
|''BCL11B''
|''BCL11B''
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