Detection of MPL exon 10 mutations in myeloproliferative neoplasms V617F-negative patients / 白血病·淋巴瘤

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.