We present the case of a 10-year-old boy diagnosed with AMKL, carrying a germline GATA2 mutation and a secondary clonal monosomy 7 in their bone marrow, which necessitated individualized chemotherapy, aggressive infection management, close clinical monitoring, and an early referral for hematopoietic stem cell transplantation (HSCT). The gene discussed is GATA2; the disease is acute megakaryoblastic leukemia.