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目的:总结1例同时伴有费城染色体和inv(16)阳性的原发性急性髓系白血病患者的临床特点,探讨其诊断及治疗方法。方法:对该病例进行了一系列的临床检查及细胞形态学、免疫表型、细胞遗传学、分子生物学等检测。结果:该例患者临床表现无特异性,细胞形态学表现为inv(16)阳性的急性髓系白血病;免疫表型主要为CD13+、CD33+、CD34+、CD117+和HLA-DR+;染色体核型分析示存在伴有inv(16)的复杂异常,部分中期分裂相除inv(16)外可检测到t(9;22);CBFβ基因重排率高于BCR/ABL融合基因重排率;该病例接受自体造血干细胞移植联合伊马替尼治疗,3年内无明显不良事件发生。结论:费城染色体作为inv(16)的附加染色体异常在原发性急性髓系白血病中较为罕见,无明确的诊断标准及治疗方案,细胞遗传学及分子生物学可能为其诊断提供依据,且自体造血干细胞移植联合伊马替尼治疗可能是其治疗有效方法之一。
OBJECTIVE: To summarize the clinical features of a patient with primary acute myeloid leukemia who was accompanied by both Philadelphia chromosome and inv(16) positive, and to explore its diagnosis and treatment. METHODS: A series of clinical examinations and cytomorphology, immunophenotypes, cytogenetics, and molecular biology tests were performed on this case. RESULTS: The clinical manifestation of this patient was non-specific. The histomorphology of the patient was inv(16) positive acute myeloid leukemia; the immunophenotypes were mainly CD13+, CD33+, CD34+, CD117+, and HLA-DR+; karyotype analysis showed the presence of With the complex anomaly of inv(16), t(9;22) could be detected except for inv(16) in some metaphase divisions; the rearrangement rate of CBFβ gene was higher than that of BCR/ABL fusion gene; this case received autologous Hematopoietic stem cell transplantation combined with imatinib treatment, no significant adverse events occurred within 3 years. Conclusion: Philadelphia Chromosome as an additional chromosomal abnormality of inv(16) is rare in primary acute myeloid leukemia. There is no definite diagnostic criteria and treatment options. Cytogenetics and molecular biology may provide a basis for its diagnosis and autologous Hematopoietic stem cell transplantation combined with imatinib may be one of the effective treatments.