The genetic characteristics of BCR-ABL-negative myeloproliferative neoplasms
10.3760/cma.j.issn.0578-1426.2020.01.006
- VernacularTitle: BCR-ABL阴性骨髓增殖性肿瘤的基因特征研究
- Author:
Xiaodong LYU
1
;
Yangwei LI
1
;
Zhen GUO
1
;
Yaping XIN
2
;
Jieying HU
1
;
Ruihua FAN
1
;
Yongping SONG
1
Author Information
1. the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou 450008, China
2. The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450014, China
- Publication Type:Journal Article
- Keywords:
Myeloproliferative neoplasms;
Disease type;
High-throughput sequencing;
Gene mutation
- From:
Chinese Journal of Internal Medicine
2020;59(1):35-39
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the relationship between driver gene mutation (JAK2, MPL and CALR) and disease type in BCR-ABL negative myeloproliferative neoplasms (MPNs) including primary myeloid fibrosis (PMF), essential thrombocytosis (ET) and polycythemia vera (PV).
Methods:A total of 32 MPN related genes were detected by high-throughput sequencing in 156 MPN patients. The relationships between disease type and patients′ general performance, the characteristics of driver gene mutations, concomitant gene mutations were analyzed.
Results:In the population with JAK2 V617F positive mutation, the proportion of patients over 60 years old in PMF was higher than that with ET or PV. By high-throughput sequencing, 22 concomitant gene mutations were detected in 46 patients with JAK2, MPL or CALR mutations, including 4 (8.3%) in PV, 20 (29.4%) in ET, and 22 (55.0%) in PMF. DNMT3A mutation was detected only in patients with PV, while splicing factor related genes including SF3B1, SRSF2 and U2AF1 were only accompanied by PMF. According to the variation allele frequency (VAF) value of JAK2 V617F mutation, the VAF value associated with PV was the highest (68.15%), followed by PMF (37.7%) and ET (23%). However, there were significant differences in the incidence of JAK2 V617F homozygous among 3 different diseases. In patients with JAK2 mutation, the proportion of other gene mutations in PV and ET was significantly lower than that in PMF.
Conclusions:Under the condition of common driver gene mutations (JAK2, MPL and CALR), patients′ age, VAF value and homozygous state, concomitant gene mutations are closely related to different disease type. These correlations help to improve clinical understanding of disease characteristics and risk assessment.
