Yoshimaru Ryo, Kuzume Ayumi, Nakamura Hirotaka, Guo Yon-Mei, Chi SungGi, Nakamura Saki, Iida Michiko, Kawamura Kimihiko, Akie Kenta, Minami Yosuke, Yuda Junichiro
Department of Hematology and Oncology, National Cancer Center Hospital East, Kashiwa, JPN.
Department of Clinical Laboratory, National Cancer Center Hospital East, Kashiwa, JPN.
Cureus. 2025 Aug 10;17(8):e89715. doi: 10.7759/cureus.89715. eCollection 2025 Aug.
Acute myeloid leukemia (AML) with double minute chromosomes (dmin) is a rare complication and has been reported to be refractory to chemotherapy, with a poor prognosis. A 65-year-old woman presented to a local hospital with chronic thyroiditis and sarcoidosis. She underwent a routine blood test that indicated 13% blasts in her peripheral blood. Bone marrow examination revealed 51% myeloblasts with Auer bodies, leading to the diagnosis of AML (French-American-British classification: M2; WHO classification: AML, NOS; AML with maturation). Chromosome examination (G-banding) showed the following karyotypes: 46,XX,2-11 dmin(4/20); 47,idem,+4(5/20); and 46,XX(11/20). Fluorescence in situ hybridization analysis demonstrated amplification of MYC. Genetic testing via leukemia chimeric screening was negative. The patient achieved complete remission (CR) with reduced-dose induction therapy (daunorubicin 50 mg/m² × 3 days; cytarabine 100 mg/m² × 7 days). After three courses of reduced-dose consolidation therapy (high-dose cytarabine 1,500 mg/m²), the patient remained in CR for 5 years and showed long-term survival. AML with amplification of MYC on dmin, combined with complex karyotypes, can acquire resistance to treatment due to the activity of other oncogenes in addition to MYC amplification. In cases with dmin, evaluation of other chromosomes and genetic abnormalities associated with poor prognosis is key to predicting outcome and determining the treatment plan.
伴有双微体染色体(dmin)的急性髓系白血病(AML)是一种罕见的并发症,据报道对化疗耐药,预后较差。一名65岁女性因慢性甲状腺炎和结节病就诊于当地医院。她接受了常规血液检查,结果显示外周血中有13%的原始细胞。骨髓检查发现51%的成髓细胞伴有奥氏小体,从而诊断为AML(法美英分类:M2;世界卫生组织分类:AML,未另行分类;伴有成熟的AML)。染色体检查(G显带)显示以下核型:46,XX,2 - 11 dmin(4/20);47,同前,+4(5/20);以及46,XX(11/20)。荧光原位杂交分析显示MYC基因扩增。通过白血病嵌合筛查进行的基因检测为阴性。患者通过减量诱导治疗(柔红霉素50 mg/m²×3天;阿糖胞苷100 mg/m²×7天)实现了完全缓解(CR)。在接受三个疗程的减量巩固治疗(大剂量阿糖胞苷1500 mg/m²)后,患者持续CR达5年,并显示出长期生存。伴有dmin上MYC基因扩增且合并复杂核型的AML,除MYC扩增外,由于其他致癌基因的活性,可能会获得治疗耐药性。在伴有dmin的病例中,评估其他与预后不良相关的染色体和基因异常对于预测预后和确定治疗方案至关重要。