[Diagnosis and Risk Stratification of Acute Myeloid Leukemia, Myelodysplasia -Related]

To analyze the clinical and genetic characteristics of acute myeloid leukemia, myelodysplasia-related (AML-MR) patients and evaluate their prognostic risk stratification, to guide clinical treatment decisions and improve understanding of the biological characteristics and disease progression.

The study analyzed cellular and molecular genetic information of 307 AML-MR patients, diagnosed based on clinical history, bone marrow morphology, cytogenetics, and molecular genetic abnormalities. The risk stratification followed the 2022 ELN guidelines.

57 cases (18.6%) met the AML-MR diagnostic criteria based on morphology and clinical history, 110 cases (37.2%) met the AML-MR diagnostic criteria based on cytogenetic results, and 210 cases (74.5%) met the AML-MR diagnostic criteria based on molecular testing results. Among different type of mutations, ASXL1 mutation was the most frequent, followed by SRSF2 and BCOR mutations. Except for 2 cases with incomplete data that could not be classified, 263 (86.2%) of the 305 patients were classified as poor prognosis, 20 (6.6%) were classified as good prognosis group, and 22 (7.2%) were classified as intermediate prognosis group.

Molecular genetic information plays a crucial role in diagnosing AML-MR, highlighting the importance of genetics in diagnosis and prognosis. Most AML-MR patients fall into poor prognosis categories, necessitating early intensive and targeted therapy for better survival outcomes.