Autor: |
Brittany Salter, Sarah Ge, Amy Tam, Suzanne Demczuk, Darci Butcher, Elizabeth McCready, Dina Khalaf |
Jazyk: |
angličtina |
Rok vydání: |
2024 |
Předmět: |
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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. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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