Detection of Genetic Mutations in Primary Hypereosinophilia Patients.
10.19746/j.cnki.issn.1009-2137.2019.02.031
- Author:
Jie ZHOU
1
;
Hao WU
1
;
Bing LI
1
;
Ai-Bin LIANG
1
;
Jian-Fei FU
2
Author Information
1. Department of Hematology, Shanghai Tongji Hospital, Shanghai, 200065, China.
2. Department of Hematology, Shanghai Tongji Hospital, Shanghai, 200065, China,E-mail: fjf2017@tongji.edu.cn.
- Publication Type:Journal Article
- MeSH:
Base Sequence;
Humans;
Hypereosinophilic Syndrome;
genetics;
Mutation;
Receptors, Thrombopoietin;
Sequence Deletion;
fms-Like Tyrosine Kinase 3
- From:
Journal of Experimental Hematology
2019;27(2):504-508
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the potential pathogenetic mutations of primary hypereosinophilia（HEN）by sequencing FGFR1 FLT3, MPL and JAK2 genes, and to clarify their effect on clinical manifestation and prognosis of HEN patients.
METHODS:The direct DNA sequencing was employed to detect the gene mutations of FGFR1, FLT3, MPL and JAK2 in HEN patients.
RESULTS:One deletion mutation (2654_2753del) within tyrosine kinase domain of FLT3 gene was found in a patient suffered from severe symptoms and ended with dismal outcome, which induced a premature stop codon (G885fsX888). For FGFR1, a new variation described as 1014_1019del AACAGT for nucleotide change was found in 19 cases, resulting in T339_V340del at the protein level.
CONCLUSION:The deletion of 6 bases in the FGFR1 gene (1014_1019del AACAGT) is first reported as non-synonymous SNP (nsSNP) site in the patients with primary hypereosinophilia. Deletion mutations in the FLT3 gene may be related with malignant clinical features and poor prognosis.
