Characterization of mutational pattern in patients with Ph negative myeloproliferative neoplasms
10.3760/cma.j.issn.0529-5807.2016.09.008
- VernacularTitle:Ph 阴性骨髓增殖性肿瘤患者的基因突变特点
- Author:
Fei XING
1
;
Yani LIN
;
Qi SUN
;
Li QIN
;
Yujiao JIA
;
Donglei ZHANG
;
Kun RU
Author Information
1. 中国医学科学院 北京协和医学院 血液病医院 血液学研究所 病理和临检中心
- Keywords:
Myeloproliferative;
Genes;
Mutation
- From:
Chinese Journal of Pathology
2016;45(9):626-630
- CountryChina
- Language:Chinese
-
Abstract:
Objective To characterize the molecular profile in patients with Ph negative myeloproliferative neoplasms ( MPN) by exploring 49 gene mutations.Methods Targeted gene sequencing were performed to analyze 49 MPN-associated genes in 51 patients with Ph negative MPN, of which CARL ( exon 9 ) , NPM1 ( exon 12 ) and CEBPA ( TAD, BZIP domains ) were investigated by using Sanger sequencing simultaneously, while FLT3-ITD was assessed by PCR method. Results Mutations were detected in 73.5%(36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%( 31/51 ) , 7.8%( 4/51 ) and 7.8%( 4/51 ) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%.In addition, 96.1%(49/51) of patients harbored at least one mutation, and more than half of the patients (52.9%,27/51) possessed 3 or 4 gene mutations.The amount of gene mutations was significantly higher in patients with JAK2-V617F mutation than those without JAK2-V617F or CALR (exon 9) mutation (P<0.05).The last finding was that there was no statistically significant difference in the amount of mutations among four MPN subtypes ( PV, ET, PMF, and MPN-U) . Conclusion Most patients with Ph negative MPN possesses three or more gene mutations, with various mutational profiles.
