HAEM5:B lymphoblastic leukaemia/lymphoma with TCF3::PBX1 fusion: Difference between revisions

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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>. 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)

|D: Requires demonstration of ''TCF3''::''PBX1'' rearrangement

P: Associated with intermediate to relatively favorable clinical outcomes<ref>{{Cite journal|last=Burmeister|first=Thomas|last2=Gökbuget|first2=Nicola|last3=Schwartz|first3=Stefan|last4=Fischer|first4=Lars|last5=Hubert|first5=Daniela|last6=Sindram|first6=Annette|last7=Hoelzer|first7=Dieter|last8=Thiel|first8=Eckhard|date=2010-02|title=Clinical features and prognostic implications of TCF3-PBX1 and ETV6-RUNX1 in adult acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/19713226|journal=Haematologica|volume=95|issue=2|pages=241–246|doi=10.3324/haematol.2009.011346|issn=1592-8721|pmc=2817026|pmid=19713226}}</ref><ref>{{Cite journal|last=Felice|first=María S.|last2=Gallego|first2=Marta S.|last3=Alonso|first3=Cristina N.|last4=Alfaro|first4=Elizabeth M.|last5=Guitter|first5=Myriam R.|last6=Bernasconi|first6=Andrea R.|last7=Rubio|first7=Patricia L.|last8=Zubizarreta|first8=Pedro A.|last9=Rossi|first9=Jorge G.|date=2011-07|title=Prognostic impact of t(1;19)/ TCF3-PBX1 in childhood acute lymphoblastic leukemia in the context of Berlin-Frankfurt-Münster-based protocols|url=https://pubmed.ncbi.nlm.nih.gov/21534874|journal=Leukemia & Lymphoma|volume=52|issue=7|pages=1215–1221|doi=10.3109/10428194.2011.565436|issn=1029-2403|pmid=21534874}}</ref><ref>{{Cite journal|last=Lin|first=Anna|last2=Cheng|first2=Frankie W. T.|last3=Chiang|first3=Alan K. S.|last4=Luk|first4=Chung-Wing|last5=Li|first5=Rever C. H.|last6=Ling|first6=Alvin S. C.|last7=Cheuk|first7=Daniel K. L.|last8=Chang|first8=Kai-On|last9=Ku|first9=Dennis|date=2018-12|title=Excellent outcome of acute lymphoblastic leukaemia with TCF3-PBX1 rearrangement in Hong Kong|url=https://pubmed.ncbi.nlm.nih.gov/30051646|journal=Pediatric Blood & Cancer|volume=65|issue=12|pages=e27346|doi=10.1002/pbc.27346|issn=1545-5017|pmid=30051646}}</ref><ref>{{Cite journal|last=Yilmaz|first=Musa|last2=Kantarjian|first2=Hagop M.|last3=Toruner|first3=Gokce|last4=Yin|first4=C. Cameron|last5=Kanagal-Shamanna|first5=Rashmi|last6=Cortes|first6=Jorge E.|last7=Issa|first7=Ghayyas|last8=Short|first8=Nicholas J.|last9=Khoury|first9=Joseph D.|date=2021-01|title=Translocation t(1;19)(q23;p13) in adult acute lymphoblastic leukemia - a distinct subtype with favorable prognosis|url=https://pubmed.ncbi.nlm.nih.gov/32955970|journal=Leukemia & Lymphoma|volume=62|issue=1|pages=224–228|doi=10.1080/10428194.2020.1824071|issn=1029-2403|pmc=11648456|pmid=32955970}}</ref>. 5-year event-free survival (80-88.2%)<ref>{{Cite journal|last=Jeha|first=Sima|last2=Choi|first2=John|last3=Roberts|first3=Kathryn G.|last4=Pei|first4=Deqing|last5=Coustan-Smith|first5=Elaine|last6=Inaba|first6=Hiroto|last7=Rubnitz|first7=Jeffrey E.|last8=Ribeiro|first8=Raul C.|last9=Gruber|first9=Tanja A.|date=2021-07|title=Clinical significance of novel subtypes of acute lymphoblastic leukemia in the context of minimal residual disease-directed therapy|url=https://pubmed.ncbi.nlm.nih.gov/34250504|journal=Blood Cancer Discovery|volume=2|issue=4|pages=326–337|doi=10.1158/2643-3230.bcd-20-0229|issn=2643-3249|pmc=8265990|pmid=34250504}}</ref>.

==Individual Region Genomic Gain/Loss/LOH==

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