HAEM5:B lymphoblastic leukaemia/lymphoma with TCF3::PBX1 fusion: Difference between revisions
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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|''TCF3::PBX1'' fusion protein||''TCF3::PBX1''||The ''TCF3''::''PBX1'' fusion results in the production of a fusion protein that has an oncogenic role as a transcriptional activator; it also probably interferes with the normal function of the transcription factors encoded by ''TCF3'' and ''PBX1''<ref>{{Cite journal|last=LeBrun|first=David P.|date=2003-05-01|title=E2A basic helix-loop-helix transcription factors in human leukemia|url=https://pubmed.ncbi.nlm.nih.gov/12700034|journal=Frontiers in Bioscience: A Journal and Virtual Library|volume=8|pages=s206–222|doi=10.2741/1030|issn=1093-9946|pmid=12700034}}</ref>||t(1;19)(q23;q13.3) | |''TCF3::PBX1'' fusion protein||''TCF3::PBX1''||The ''TCF3''::''PBX1'' fusion results in the production of a fusion protein that has an oncogenic role as a transcriptional activator; it also probably interferes with the normal function of the transcription factors encoded by ''TCF3'' and ''PBX1''<ref>{{Cite journal|last=LeBrun|first=David P.|date=2003-05-01|title=E2A basic helix-loop-helix transcription factors in human leukemia|url=https://pubmed.ncbi.nlm.nih.gov/12700034|journal=Frontiers in Bioscience: A Journal and Virtual Library|volume=8|pages=s206–222|doi=10.2741/1030|issn=1093-9946|pmid=12700034}}</ref>. Oligomerization and/or direct interaction with HOX proteins through the PBX1 moiety may play a role in ''TCF3-PBX1'' leukemogenesis<ref>{{Cite journal|last=Lin|first=Chiou-Hong|last2=Wang|first2=Zhong|last3=Duque-Afonso|first3=Jesús|last4=Wong|first4=Stephen Hon-Kit|last5=Demeter|first5=Janos|last6=Loktev|first6=Alexander V.|last7=Somervaille|first7=Tim C. P.|last8=Jackson|first8=Peter K.|last9=Cleary|first9=Michael L.|date=2019-03-20|title=Oligomeric self-association contributes to E2A-PBX1-mediated oncogenesis|url=https://pubmed.ncbi.nlm.nih.gov/30894657|journal=Scientific Reports|volume=9|issue=1|pages=4915|doi=10.1038/s41598-019-41393-w|issn=2045-2322|pmc=6426973|pmid=30894657}}</ref>.||t(1;19)(q23;q13.3) | ||
|Common | |Common | ||
|D: Requires demonstration of ''TCF3''::''PBX1'' rearrangement | |D: Requires demonstration of ''TCF3''::''PBX1'' rearrangement | ||
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|No (NCCN) | |No (NCCN) | ||
|There may be an increased relative risk of CNS relapse in these patients<ref>{{Cite journal|last=Jeha|first=S.|last2=Pei|first2=D.|last3=Raimondi|first3=S. C.|last4=Onciu|first4=M.|last5=Campana|first5=D.|last6=Cheng|first6=C.|last7=Sandlund|first7=J. T.|last8=Ribeiro|first8=R. C.|last9=Rubnitz|first9=J. E.|date=2009-08|title=Increased risk for CNS relapse in pre-B cell leukemia with the t(1;19)/TCF3-PBX1|url=https://pubmed.ncbi.nlm.nih.gov/19282835|journal=Leukemia|volume=23|issue=8|pages=1406–1409|doi=10.1038/leu.2009.42|issn=1476-5551|pmc=2731684|pmid=19282835}}</ref>. Relapsed patients appear to have a dismal prognosis. | |There may be an increased relative risk of CNS relapse in these patients<ref>{{Cite journal|last=Jeha|first=S.|last2=Pei|first2=D.|last3=Raimondi|first3=S. C.|last4=Onciu|first4=M.|last5=Campana|first5=D.|last6=Cheng|first6=C.|last7=Sandlund|first7=J. T.|last8=Ribeiro|first8=R. C.|last9=Rubnitz|first9=J. E.|date=2009-08|title=Increased risk for CNS relapse in pre-B cell leukemia with the t(1;19)/TCF3-PBX1|url=https://pubmed.ncbi.nlm.nih.gov/19282835|journal=Leukemia|volume=23|issue=8|pages=1406–1409|doi=10.1038/leu.2009.42|issn=1476-5551|pmc=2731684|pmid=19282835}}</ref>. Relapsed patients appear to have a dismal prognosis. | ||
Although the t(1;19) translocation can be readily detected by conventional chromosome studies, FISH confirmation is often needed since a karyotypically similar t(1;19) without involvement of TCF3 or PBX1 has been reported<ref name=":0" />. | |||
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