Long-term Remission of Acute Myeloid Leukemia Developed From Systemic Mastocytosis by Conventional Chemotherapy.

Long-term Remission of Acute Myeloid Leukemia Developed From Systemic Mastocytosis by Conventional Chemotherapy.
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通过常规化疗从系统性肥大细胞增多症发展而来的急性髓系白血病的长期缓解。

DOI:
10.1097/mph.0000000000001259
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发表时间:
2018
期刊:
J Pediatr Hematol Oncol.
影响因子:
--
通讯作者:
Moritake H.
Moritake H.
中科院分区:
--
文献类型:
--
作者:
2.Yamada A;Kinoshita M;Sawa D;Saito Y;Kamimura S;Miyachi H;Moritake H.

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系统性肥大细胞增多症(Systemic mastocytosis,SM)是一种以肥大细胞异常增殖为特征的疾病,其KIT突变尤其是在密码子816处。由SM发展为急性髓系白血病(AML)的患者预后极差,建议进行造血细胞移植。在此,我们描述了一个8岁的女性诊断为SM发展AML的情况。在白血病细胞、正常造血细胞和口腔粘膜细胞中鉴定出SM中的KIT M541L变体,表明其具有生殖系多态性。患者在完成化疗后39个月保持完全缓解。没有KIT D816突变的SM发展AML可能不一定与预后不良相关。
Systemic mastocytosis (SM) is a disorder characterized by abnormal proliferation of mast cells with KIT mutations, especially in codon 816. The prognosis of patients developing acute myeloid leukemia (AML) from SM is extremely poor, and hematopoietic cell transplantation is recommended. Herein, we describe a case of an 8-year-old female diagnosed with SM developing AML. A KIT M541L variant in SM was identified in leukemic cells, normal hematopoietic cells, and buccal mucosal cells, suggesting a germline polymorphism. The patient has remained in complete remission for 39 months after completion of chemotherapy. SM developing AML without a KIT D816 mutation may be not necessarily associated with a poor prognosis.
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