Lekárska genetika a diagnostika 1/2025
Rare recurrent translocations in adult patients with acute myeloid leukemia
Acute myeloid leukemia (AML) is a clonal hematologic malignancy caused by genetic mutations in myeloid hematopoietic precursor cells, leading to their uncontrolled proliferation and accumulation in the bone marrow. This process disrupts normal hematopoiesis, ultimately resulting in its failure. Genetic aberrations play a crucial role in AML pathogenesis, influencing disease prognosis and therapeutic options. These insights have been incorporated into the updated classification of the World Health Organization (WHO) and the International Consensus Classification (ICC) of myeloid neoplasms and acute leukemias. Recurrent cytogenetic alterations have been particularly significant, forming the basis for defining new AML entities in both classification systems. The ICC has also introduced a subgroup encompassing 12 rare recurrent translocations, occurring in fewer than 4% of AML patients. In this study, we focus on three rare translocations—t(8;16)(p11;p13), t(16;21)(p11;q22), and t(16;12)(q24;q22)—which we identified in six adult AML patients over a four-year period. We describe individual clinical and genetic findings, disease progression, and prognostic implications to contribute to a better understanding of the relationship between these genetic alterations and disease outcomes.
Keywords: acute myeloid leukemia (AML), cytogenetic aberrations, mutations, rare recurrent translocations, International Consensus Classification (ICC)
