Triple – negative essential thrombocythemia in a child: A diagnostic challenge

Pediatric Hematology Oncology Journal Pub Date : 2025-05-13 DOI:10.1016/j.phoj.2025.100453

Neha Goel, Deepak Kumar Jha, Sanghamitra Ray, Sumit Mehndiratta, Nidhi Chopra, Amitabh Singh

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Abstract

Background

Essential thrombocythemia (ET) is a well-defined entity that is characterized by the presence of splenomegaly, uncontrolled hematopoiesis, and is independent of control of growth factors. The annual incidence of ET in children has been estimated to be around 0.004–0.11 per 100,000 children aged between 0 and 16 years of age.

Case report

A 10-year-old girl child presented with hemetemesis and was found to have extreme thrombocytosis. There was no significant family history, and her parents' hemogram was within normal limits. The child was diagnosed as a case of 'triple negative' (JAK2-V617F, CALR and MPL mutation negative) essential thrombocythemia on whole exome sequencing. Since the child was asymptomatic, no treatment was initiated. The child has been followed up every two weeks for up to six months, and continued to have asymptomatic thrombocytosis.

Conclusion

The case increases awareness amongst pediatric hematologists regarding this rare entity in childhood. This case also reemphasizes the importance of detailed work up in order to reach an accurate diagnosis.

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儿童三阴性原发性血小板增多症：一个诊断挑战

原发性血小板增多症（ET）是一种定义明确的实体，其特征是脾肿大，造血不受控制，并且独立于生长因子的控制。据估计，0至16岁儿童ET的年发病率约为0.004-0.11 / 10万。病例报告一个10岁的女孩提出了呕血和发现有极端的血小板增多。无明显家族史，父母血象在正常范围内。根据全外显子组测序，该儿童被诊断为“三阴性”（JAK2-V617F、CALR和MPL突变阴性）原发性血小板减少症。由于该儿童无症状，没有开始治疗。该儿童每两周随访长达6个月，并继续有无症状的血小板增多。结论：该病例提高了儿科血液学家对儿童罕见血液病的认识。这个病例也再次强调了详细工作的重要性，以达到准确的诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Hematology Oncology Journal

CiteScore

1.00

自引率

0.00%

发文量