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伴有del(20)(q12q13)持续性克隆性造血的近四倍体急性髓系白血病长期缓解病例

Near Tetraploidy Acute Myeloid Leukemia in Long-term Remission with Persistent Clonal Hematopoiesis with del(20)(q12q13).

作者信息

Takahashi Tohru, Ishiguro Kazuya, Maruyama Yumiko, Kazama Tomoe, Takamura Takenori, Itoh Hideto, Yoshimoto Mitsuru, Tsujisaki Masayuki, Ohba Go

机构信息

Department of Hematology, Tenshi Hospital, Japan.

Department of Gastroenterology, Tenshi Hospital, Japan.

出版信息

Intern Med. 2017 Nov 1. doi: 10.2169/internalmedicine.9122-17.

Abstract

Patients with near tetraploidy/tetraploidy (NT/T)-acute myeloid leukemia (AML) are rare and generally show poor survival. A 62-year-old man was referred to our hospital with pancytopenia. A bone marrow examination revealed the proliferation of extremely large blasts, and led to the diagnosis of AML M0. A cytogenetic analysis showed an NT-karyotype of 91, XXYY, -5, add(18)(p21),del(20)(q12q13) ×2. Complete remission was achieved with single remission induction chemotherapy. Although consolidation chemotherapies were not available because of his critical condition, he remained in remission and survived for more than 40 months without cytopenia. However, repeated bone marrow examinations showed persistent clonal hematopoiesis with del(20)(q12q13) without apparent myelodysplasia.

摘要

近四倍体/四倍体(NT/T)急性髓系白血病(AML)患者较为罕见,总体生存率通常较低。一名62岁男性因全血细胞减少症转诊至我院。骨髓检查发现有极大的原始细胞增殖,诊断为AML M0。细胞遗传学分析显示NT核型为91,XXYY,-5,add(18)(p21),del(20)(q12q13)×2。单次缓解诱导化疗实现了完全缓解。尽管由于其病情危急无法进行巩固化疗,但他仍处于缓解状态,存活超过40个月且无血细胞减少。然而,反复的骨髓检查显示存在持续的伴有del(20)(q12q13)的克隆性造血,且无明显的骨髓发育异常。

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