[Successful treatment with venetoclax and azacitidine in a patient with acute myeloid leukemia with BCR::ABL1 fusion].

Kenta Motegi, Akira Katsumi
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Abstract

An 80-year-old woman presented with fatigue. Routine blood tests at her previous medical institution revealed a decreased white blood cell count, leading to a diagnosis of low-risk myelodysplastic syndrome. During observation, the disease progressed to acute myeloid leukemia (AML), and she was subsequently referred to our hospital. At the time of AML diagnosis, bone marrow examination detected minor BCR-ABL mRNA. Fluorescence in situ hybridization showed a positive BCR-ABL fusion signal in 7.5% of bone marrow cells. Treatment with venetoclax and azacitidine was initiated, and led to hematological remission after one cycle. A bone marrow examination after two cycles confirmed the maintenance of hematological remission, and RT-PCR showed reduced minor BCR-ABL mRNA levels. AML with BCR-ABL1 fusion generally has a poor prognosis and has no established treatment, but in this case, treatment with venetoclax and azacitidine successfully induced remission and demonstrated potential efficacy against BCR-ABL fusion-positive clones.

一名 80 岁的妇女因疲劳而就诊。她在之前就诊的医疗机构进行的血常规检查发现白细胞计数下降,因此被诊断为低风险骨髓增生异常综合征。在观察期间,病情发展为急性髓性白血病(AML),随后她被转诊到我院。在确诊急性髓细胞白血病时,骨髓检查发现了少量 BCR-ABL mRNA。荧光原位杂交显示,7.5%的骨髓细胞中BCR-ABL融合信号呈阳性。患者开始接受 Venetoclax 和阿扎胞苷治疗,一个周期后血液学症状得到缓解。两个周期后的骨髓检查证实血液学缓解得以维持,RT-PCR显示轻微的BCR-ABL mRNA水平降低。BCR-ABL1融合的急性髓细胞性白血病一般预后较差,也没有成熟的治疗方法,但在该病例中,使用venetoclax和阿扎胞苷治疗成功诱导了病情缓解,并证明了对BCR-ABL融合阳性克隆的潜在疗效。
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