Late acquisition of BCR::ABL1 during clonal evolution of SAMD9-associated MDS with phenotypic shift from AML to B-ALL.
Yusuke Nakata, Anna Hiratsuka, Takeshi Yoroidaka et al.
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Case in brief
This case describes a patient with SAMD9-associated myelodysplastic syndrome (MDS) with monosomy 7, which evolved over 16 years into BCR::ABL1-positive acute myeloid leukemia (AML) and later transformed into B-cell acute lymphoblastic leukemia (B-ALL). Genomic analysis revealed a germline SAMD9 mutation and somatic mutations, indicating clonal evolution. Treatment with venetoclax and azacitidine led to a phenotypic shift to B-ALL, with ponatinib achieving disease control.
What made this case unusual
The late acquisition of BCR::ABL1 during the clonal evolution of SAMD9-associated MDS, along with the phenotypic shift from AML to B-ALL, is noteworthy.
Diagnostic / clinical pearl
Clinicians should consider the potential for late genetic events, such as BCR::ABL1 acquisition, during the evolution of myelodysplastic syndromes, which can lead to significant changes in disease phenotype.
Why it matters
Understanding the mechanisms of clonal evolution and phenotypic shifts in leukemias can inform treatment strategies and improve patient management.