Germline predisposition to acute myeloid leukemia in polish patients

This study aimed to identify germline pathogenic variants in the <i>KMT2A, SAMD9, SAMD9L, ANKRD26,</i> and <i>ATG2B</i> genes among patients with acute myeloid leukemia. The study included 92 patients with <i>de novo</i> AML. A novel, likely pathogenic germline variant was identified in the <i>SAMD9</i> gene in one patient. Additionally, germline variants of uncertain significance were detected in four patients: one in <i>KMT2A</i>, two in <i>ANKRD26</i>, and one in <i>ATG2B</i>. 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.