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

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.