Concurrent BCR‐ABL1 and core binding factor beta rearrangement in de novo acute myeloid leukemia: A case report and review of literature

Autor: Brittany Salter, Sarah Ge, Amy Tam, Suzanne Demczuk, Darci Butcher, Elizabeth McCready, Dina Khalaf
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: eJHaem, Vol 5, Iss 3, Pp 607-615 (2024)
Druh dokumentu: article
ISSN: 2688-6146
DOI: 10.1002/jha2.895
Popis: Abstract A distinct subset of acute myeloid leukemia (AML) is characterized by the presence of the Philadelphia chromosome (Ph+), due to reciprocal translocation t(9;22)(q34;q11.2). This chromosomal rearrangement leads to the fusion of the breakpoint cluster region (BCR) gene on chromosome 22 with the ABL1 gene on chromosome 9, generating the BCR::ABL1 fusion gene. The Ph+ AML subtype is associated with poor prognosis and resistance to conventional chemotherapy. Beyond the well‐established BCR::ABL1 fusion, recent studies have shed light on additional genetic abnormalities in Ph+ AML, including associations with rearrangements involving core binding factor beta (CBFB). We describe a case of de novo AML with concurrent BCR::ABL1 and CBFB::MYH11 rearrangements.
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