摘要患者男，62岁，以“发热10余天，发现白细胞及血小板减少2 d”收入院。患者入院10 d前无诱因出现间断发热，双肺呼吸音粗，未闻及干湿性啰音。彩超显示脾略大，双侧颈部、腋下及腹股沟多发淋巴结肿大。骨髓细胞形态学检查发现胞体异常巨大的原始细胞，部分胞核较不规则，胞浆富含空泡。免疫分型结果提示该群细胞为幼稚单核细胞。染色体核型分析显示20个细胞中19个为近四倍体核型克隆性异常，且为包含17号染色体的复杂核型。靶向二代基因测序检出与血液肿瘤相关且具有明确或潜在临床意义的基因突变为TP53、SRSF2、STAG2及ARID2，变异等位基因频率（VAF）分别为63.10%、30.30%、0.80%及0.60%。综合实验室结果，该患者临床确诊为急性髓系白血病M5（AML-M5），高危。患者经阿扎胞苷联合维奈克拉方案化疗，20余天后死亡。

abstractsA 62-year-old male, was admitted to the hospital, with a chief complaint of fever lasting over 10 days and leukopenia and thrombocytopenia for 2 days. Ten days prior to admission, the patient experienced intermittent fever without obvious incentive factors. The breath sounds in both lungs were coarse, without accompanying dry or moist rales. Color Doppler Ultrasound indicated mild splenomegaly and multiple lymphadenectasis in the bilateral cervical, axillary, and inguinal regions. Morphological examination of bone marrow cells demonstrated abnormally large blasts, with some of the nuclei being rather irregular and cytoplasmic vacuoles. Immunophenotyping results identified this group of blast cells as immature monocytes. Karyotype analysis of chromosomes showed clonal abnormalities, with 19 out of 20 cells exhibiting near-tetraploid karyotypes, including complex karyotypic abnormalities involving chromosome17.Targeted next-generation sequencing (NGS) detected gene mutations associated with hematological malignancies that have definite or potential clinical significance,including TP53, SRSF2, STAG2, and ARID2, with variant allele frequencies (VAF) of 63.10%, 30.30%, 0.80%, and 0.60%, respectively. Integrating laboratory findings, the diagnosis was diagnosed as AML-M5 at high-risk. After receiving chemotherapy with the regimen of azacitidine combined with venetoclax, the patient passed away more than 20 days later.