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一种伴有嗜碱性粒细胞增多和嗜酸性粒细胞增多且54个相关基因无致癌突变的骨髓增生异常综合征。

A Myelodysplastic Syndrome with Concurrent Basophilia and Eosinophilia Lacking Oncogenic Mutations in 54 Relevant Genes.

作者信息

Kim Miyoung, Zang Dae Young, Han Boram, Lee Jiwon, Chung Yousun, Park Chan-Jeoung, Lee Young Kyung

出版信息

Clin Lab. 2019 Jan 1;65(1). doi: 10.7754/Clin.Lab.2018.180729.

Abstract

Myelodysplastic syndromes (MDS) with basophilia or eosinophilia are very rare and portend poor prognoses. We present a rare patient who had MDS with excess blasts as well as peripheral basophilia and concurrent bone marrow (BM) basophilia/eosinophilia. She had a complex karyotype including 5q and 7q deletions; however, no oncogenic mutations were observed on next-generation sequencing of 54 genes known to be frequently mutated in acute myeloid leukemia/MDS. Peripheral basophilia resolved after decitabine treatment. Ours is the first report to describe a genome-wide analysis and the use of decitabine to successfully treat basophilia in an MDS patient with concurrent BM basophilia/eosinophilia.

摘要

伴有嗜碱性粒细胞增多或嗜酸性粒细胞增多的骨髓增生异常综合征(MDS)非常罕见,预后不良。我们报告了1例罕见患者,其患有伴原始细胞增多的MDS以及外周血嗜碱性粒细胞增多和同时存在的骨髓嗜碱性粒细胞/嗜酸性粒细胞增多。她具有复杂的核型,包括5号染色体长臂和7号染色体长臂缺失;然而,在对已知在急性髓系白血病/MDS中频繁突变的54个基因进行的二代测序中未观察到致癌突变。地西他滨治疗后外周血嗜碱性粒细胞增多得到缓解。我们的报告是首例描述全基因组分析以及使用地西他滨成功治疗1例同时存在骨髓嗜碱性粒细胞/嗜酸性粒细胞增多的MDS患者嗜碱性粒细胞增多的报道。

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