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

|''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)

|Common  

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>

|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.

<br />

|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations

|-

|''PAX5''