Gene mutation-negative essential thrombocytosis in children: report of 1 case and review of literature
10.3760/cma.j.cn115356-20201213-00302
- VernacularTitle:基因突变阴性儿童原发性血小板增多症1例并文献复习
- Author:
Sihan HUANG
1
;
Ranran ZHANG
;
Wenyu YANG
;
Xiaofan ZHU
Author Information
1. 上海交通大学医学院附属上海儿童医学中心福建医院 福建省儿童医院血液肿瘤科，福州 350001
- Keywords:
Child;
Gene mutation;
Essential thrombocytosis
- From:
Journal of Leukemia & Lymphoma
2022;31(1):51-54
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics, diagnosis and treatment methods of children with gene mutation-negative essential thrombocytosis (ET).Methods:The clinical data of a child with gene mutation-negative ET in the Blood Diseases Hospital of Chinese Academy of Medical Sciences were collected, and the related literature was reviewed.Results:The epistaxis was the main clinical symptom of this child. He was diagnosed as ET (gene mutation-negative) by bone marrow aspiration and gene detection. After hydroxyurea treatment, the platelet count increased and the clinical symptoms were improved.Conclusions:The incidence rate of ET in children is low, and the frequency of gene mutation-negative ET in children reported in the literature is different. The large number of samples and long-term follow-up studies are needed.
