t(1;3)(p36;p21)是难治性急性髓系白血病的唯一克隆异常

B. Bai, G. Lu, Shimin Hu, C. Yin
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摘要

急性髓性白血病(AML)是一种异质性的疾病,具有多种分子遗传畸变和可变的临床结果。克隆性染色体异常已在超过50%的AML病例中被发现,并被认为是最重要的预后标志物之一。我们提出一个56岁的西班牙裔男性AML与最小分化的情况。形态学上,骨髓细胞多,三期发育不全,80%为原细胞。流式细胞术分析显示,细胞为髓系免疫表型。常规细胞遗传学分析显示t(1;3)(p36;p21)是分析的20个中期中5个的唯一细胞遗传学异常。患者接受柔红霉素和阿糖胞苷治疗,首次缓解。4个月后复发,给予氟达拉滨、阿糖胞苷、伊达柔比星和G-CSF治疗,并用大剂量阿糖胞苷巩固。然后他接受了匹配的相关干细胞移植。然而,疾病再次复发,患者在初次诊断后11个月死亡。据我们所知,这是第一次报道t(1;3)(p36;p21)作为唯一的细胞遗传学异常。
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t(1;3)(p36;p21) as the Sole Clonal Abnormality in Refractory Acute Myeloid Leukemia
Acute myeloid leukemia (AML) is a heterogeneous group of diseases with a multitude of molecular genetic aberrations and variable clinical outcome. Clonal chromosomal abnormalities have been identified in over 50% of AML cases, and have been regarded as one of the most important prognostic markers. We present a case of a 56-year-old Hispanic man with AML with minimal differentiation. Morphologically, the bone marrow was hypercellular with trilineage hypoplasia and 80% blasts. Flow cytometry analysis showed that the blasts were of myeloid immunophenotype. Conventional cytogenetic analysis showed t(1;3)(p36;p21) as the sole cytogenetic abnormality in 5 of 20 metaphases analyzed. The patient received daunorubicin and cytarabine, and achieved first remission. He relapsed 4 months later, and was treated with fludarabine, cytarabine, idarubicin, and G-CSF, and consolidated with high-dose cytarabine. He then received matched related stem cell transplantation. However, the disease relapsed again, and the patient died 11 months after initial diagnosis. To our best knowledge, this is the first report of t(1;3)(p36;p21) as the sole cytogenetic abnormality.
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