Detection of MPL exon 10 mutations in myeloproliferative neoplasms V617F-negative patients
10.3760/cma.j.issn.1009-9921.2010.09.012
- VernacularTitle:JAK2 V617F阴性骨髓增殖性肿瘤患者MPL exon10突变检测
- Author:
Xiuhua CHEN
;
Hongwei WANG
;
Xiling QI
;
Yanhong TAN
;
Qiuxing LI
;
Na QIAO
;
Li ZHANG
;
Fanggang REN
- Publication Type:Journal Article
- Keywords:
Myeloproliferative disorders;
JAK2 V617F-negtive;
MPL exon 10 mutations
- From:
Journal of Leukemia & Lymphoma
2010;19(9):552-554
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the frequencies of MPL exon 10 mutations in JAK2 V617F-negative myeloproliferative neoplasms patients. Methods MPLW515K/L was processed through allele-specific PGR combined with direct sequence analysis. The mutations of others MPL exon 10 were detected by single strand conformation polymorphism PGR (PCR-SSCP) combined with direct sequencing. Results Of the 103 patients with JAK2 V617F-negtive myeloproliferative neoplasms patients, 1 carried MPLW515K mutation (TGG→AAG)in PMF; 1 was found to have new mutation (CTGGTGATCGCT insert) in ET and have homozygous mutation. Conclusion JAK2 V617F-negtive myeloproliferative neoplasms patients carried additional mutations in addition to W515K/L mutations in MPL exon 10, but its frequency of mutation is low.
