Absence of canonical mutations in pediatric essential thrombocytosis: a case series.

IF 2.3 Q2 HEMATOLOGY Blood Research Pub Date : 2024-10-17 DOI:10.1007/s44313-024-00036-4
Jae Wook Lee, Suejung Jo, Jae Won Yoo, Seongkoo Kim, Nack-Gyun Chung, Bin Cho
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Abstract

Essential thrombocytosis (ET) is a rare myeloproliferative disease in children, and there are few standard management guidelines. We herein report a case series of 10 pediatric patients with ET diagnosed at our institution over a period of 13 years. All patients fulfilled the World Health Organization diagnostic criteria for ET, and none harbored the canonical ET mutations JAK2 V617F, CALR, or MPL. Overall, 7 of the 10 patients received treatment for ET, and during follow-up, 3 of these 7 patients discontinued cytoreductive therapy. No patient experienced hemorrhagic or thrombotic complications. Our case series emphasizes that the genetic features of pediatric ET may differ significantly from those of adult ET, and that treatment cessation is a possibility for some patients.

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小儿原发性血小板增多症缺乏典型突变:一个病例系列。
原发性血小板增多症(ET)是一种罕见的儿童骨髓增生性疾病,目前几乎没有标准的治疗指南。我们在此报告了本院 13 年来确诊的 10 例 ET 儿童患者的系列病例。所有患者均符合世界卫生组织的 ET 诊断标准,无一携带 ET 典型突变 JAK2 V617F、CALR 或 MPL。总体而言,10 位患者中有 7 位接受了 ET 治疗,在随访期间,这 7 位患者中有 3 位停止了细胞再生疗法。没有患者出现出血或血栓并发症。我们的系列病例强调,小儿 ET 的遗传特征可能与成人 ET 有很大不同,一些患者有可能停止治疗。
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来源期刊
Blood Research
Blood Research HEMATOLOGY-
CiteScore
3.70
自引率
0.00%
发文量
64
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