Germline predisposition to acute myeloid leukemia in polish patients

This study aimed to identify germline pathogenic variants in the KMT2A, SAMD9, SAMD9L, ANKRD26, and ATG2B genes among patients with acute myeloid leukemia. The study included 92 patients with de novo AML. A novel, likely pathogenic germline variant was identified in the SAMD9 gene in one patient. Additionally, germline variants of uncertain significance were detected in four patients: one in KMT2A, two in ANKRD26, and one in ATG2B. The median age at AML diagnosis was six years younger in patients carrying germline variants compared to those without. The identification of AML susceptibility genes enhances our understanding of the disease pathogenesis, aids help with recognizing in recognizing individuals at elevated risk, forms the basis for genetic counseling and patient management, assists in selecting suitable donors for allogeneic hematopoietic stem cell transplantation, and supports the development of targeted therapeutic strategies.