Blastic plasmacytoid dendritic cell neoplasm arising from clonal hematopoiesis
Blastic plasmacytoid dendritic cell neoplasm arising from clonal hematopoiesis
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DOI：
10.1007/s12185-018-2461-z
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发表时间：
2018-10-01
影响因子：
2.1
通讯作者：
Chiba, Shigeru
中科院分区：
文献类型：
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作者：
Suma, Sakurako;Sakata-Yanagimoto, Mamiko;Chiba, Shigeru
母细胞浆细胞样树突状细胞肿瘤（BPDCN）是一种罕见的髓系肿瘤亚型。BPDCN发展中的克隆进化仍有待阐明。在本研究中，我们通过分析肿瘤细胞和非肿瘤血细胞中基因突变的分布来研究一例BPDCN的克隆进化。在诊断时的皮肤肿瘤和复发时的外周血单核细胞中鉴定出p.D1129fs和p.K1005fs TET2突变、p.P95H SRSF2突变和p.L287fs NPM1突变。值得注意的是，p.D1129fs TET2和p.L287fs NPM1突变仅在肿瘤细胞中观察到，而p.K1005fs TET2和p.P95H SRSF2突变在肿瘤细胞和非肿瘤血细胞中均发现。最近的遗传学研究表明，一些血癌可能起源于克隆造血，携带体细胞突变。在本病例中，数据表明BPDCN来源于通过获得额外的p.D1129fs TET2和p.L287fs NPM1突变而产生的具有p.K1005fs TET2和p.P95H SRSF2突变的克隆造血。
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare subtype of myeloid neoplasm. Clonal evolution in the development of BPDCN remains to be elucidated. In the present study, we examined clonal evolution in a case of BPDCN by analyzing the distribution of gene mutations in tumor cells and non-tumor blood cells. The p.D1129fs and p.K1005fs TET2 mutations, p.P95H SRSF2 mutation, and p.L287fs NPM1 mutation were identified in a skin tumor at diagnosis and peripheral blood mononuclear cells at relapse. Notably, the p.D1129fs TET2 and p.L287fs NPM1 mutations were observed only in tumor cells, while the p.K1005fs TET2 and p.P95H SRSF2 mutations were found in both tumor cells and non-tumor blood cells. Recent genetic studies have suggested that some blood cancers may originate from clonal hematopoiesis, harboring somatic mutations. In the present case, the data suggest that BPDCN originated from clonal hematopoiesis with the p.K1005fs TET2 and p.P95H SRSF2 mutations via acquisition of the additional p.D1129fs TET2 and p.L287fs NPM1 mutations.