JAK2 V617F阴性骨髓增殖性肿瘤患者MPL exon10突变检测

Detection of MPL exon 10 mutations in myeloproliferative neoplasms V617F-negative patients

目的 探讨MPLexon10突变在JAK2V617F阴性骨髓增殖性肿瘤（MPN）中的发生情况.方法 对235例MPN患者进行JAK2 V617F检测,对检出的103例阴性患者应用等位基因特异性聚合酶链反应（ASP-PCR）联合测序检测MPL exon10已知基因突变MPLW515K/L;应用DNA单链构象多态性聚合酶链反应（SSCP-PCR）联合测序检测MPL exon10未知突变.结果 103例JAK2 V617F阴性MPN患者中MPLW515K/L检出1例MPLW515K（TGG→AAG）,为原发性骨髓纤维化（PMF）患者;MPLexon10未知突变检测发现1例原发性血小板增多症（ET）患者存在新的突变类型,即MPL核苷酸1491-1492位之间插入12个碱基（CTGGTGATCGCT）,且为纯合突变.结论 JAK2 V617F阴性MPN患者在MPL基因exon10区域内除已知W515K/L突变外尚存在新的突变位点,但突变率较低.

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.