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Updated: Jul 25, 2025

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在MPL基因上具有双重突变的MPNs的额外遗传变异和克隆进化:两个病例报告

Maria Stella Pennisi1,2, Sandra Di Gregorio1,2, Elena Tirrò1,2

  • 1Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.

Hematology reports
|June 27, 2023
PubMed
概括

这项研究报告了两例罕见的骨髓增殖性瘤 (MPNs) 病例,同时出现了双倍的Janus Kinase 2 (JAK2) 和骨髓增殖性白血病 (MPL) 病毒瘤基因突变,突出了下一代测序在识别复杂遗传变化的有用性.

关键词:
JAK2V617F 在线播放MPLV501A-W515L MPLV501A-W515L的使用情况这种突变是 cis 突变.基本的血栓细胞血症.原发性骨髓纤维化

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