JAK2基因V617F突变致儿童原发性血小板增多症1例

摘要]目的：探讨JAK2基因V617F突变致儿童原发性血小板增多症（ET）的临床特征及基因突变特点。方法：回顾性分析1例JAK2基因V617F突变致ET患儿的临床资料和全外显子测序（WES）结果，并进行文献复习，总结JAK2基因V617F突变致ET患儿的临床特征。结果：WES结果显示JAK2基因第14外显子V617F体细胞突变，突变丰度为28%，患儿父母未见该突变。该位点已被报道与真性红细胞增多（PV）、血小板增多症3型、Budd-Chiari综合征、急性髓性白血病相关，结合患儿临床表现，确诊为ET。结论：对临床表现为血小板增多患者可进行基因检测以明确诊断。

A Case of Essential Thrombocythemia Induced by JAK2 Gene V617F Mutation

Abstract] Objective: To explore the clinical characteristics and gene mutation of children with essential thrombocytopenia (ET) induced by JAK2 gene V617F mutation. Methods: The clinical data and whole exome sequencing (WES) results of a child with ET induced by JAK2 gene V617F mutation were retrospectively analyzed, and the literature was reviewed to summarize the clinical characteristics of children with ET induced by JAK2 gene V617F mutation. Results: WES showed that the V617F mutation in exon 14 of JAK2 gene was found and mutated with a mutation ratio of 28%, which was not seen in the parents of the child. This mutation had been reported to be associated with polycythemia vera (PV), thrombocytopenia type 3, Budd-Chiari syndrome and acute myeloid leukemia. Combined with the clinical manifestations, the child was diagnosed as ET. Conclusion: Gene test can be performed in the patients with thrombocytosis to make a definite diagnosis.