Aplastic anemia and clonal evolution:germline and somatic genetics / 白血病·淋巴瘤

ABSTRACT

Clonal progression to myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germline and somatic mutations for diagnosing and monitoring patients with BMF. Most germline genetic BMF disorders are characterized by a high propensity to develop MDS or AML. Recent studies of somatic variants in marrow failure revealed a high frequency of clonal hematopoiesis with the acquisition of mutations in genes associated with MDS or AML. The evaluation and implications of germline and somatic mutations for the development of clonal disorders in patients with BMF and challenges of clinical genetic testing will be summarized in this paper based on the reports from the 58th American Society of Hematology (ASH) Annual Meeting.