墨西哥费城染色体阴性骨髓增殖性肿瘤患者中JAK2、MPL和CALR的突变谱

The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia chromosome-negative myeloproliferative neoplasms.

作者信息

Labastida-Mercado Nancy, Galindo-Becerra Samantha, Garcés-Eisele Javier, Colunga-Pedraza Perla, Guzman-Olvera Valeria, Reyes-Nuñez Virginia, Ruiz-Delgado Guillermo J, Ruiz-Argüelles Guillermo J

机构信息

Centro de Hematología y Medicina Interna de Puebla, Mexico; Universidad Popular Autónoma del Estado de Puebla, Mexico.

Universidad Popular Autónoma del Estado de Puebla, Mexico; Laboratorios Clínicos de Puebla, Mexico.

出版信息

Hematol Oncol Stem Cell Ther. 2015 Mar;8(1):16-21. doi: 10.1016/j.hemonc.2014.12.002. Epub 2015 Jan 21.

DOI:10.1016/j.hemonc.2014.12.002

PMID:25637689

Abstract

CONTEXT AND OBJECTIVE

By using molecular markers, it is possible to gain information on both the classification and etiopathogenesis of chronic myeloproliferative neoplasias (MPN).

METHODS

In a group of 27 Mexican mestizo patients with MPNs, we studied seven molecular markers: the BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation, the MPL W515K mutation, and the calreticulin (CALR) exon 9 deletion or insertion. Patients with the BCR/ABL1 fusion gene were excluded. We studied 14 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary myelofibrosis (MF), and one with undifferentiated MPN.

RESULTS

We found twelve individuals with the JAK2 V617F mutation; five of them had been clinically classified as PV, five as ET, and one as MF. One patient with the MPL W515L was identified with a clinical picture of ET. Five patients with the CALR mutation were identified, four ET and one MF. No individuals with either the MPL W515K mutation or the JAK2 exon 12 mutations were identified. The most consistent relationship was that between PV and the JAK2 V617F mutation (p=.01).

CONCLUSIONS

Despite its small size, the study shows much less prevalence of JAK2 mutation in PV, ET and MF, which does not match international data.

摘要

背景与目的

通过使用分子标志物，有可能获得关于慢性骨髓增殖性肿瘤（MPN）的分类和病因发病机制的信息。

方法

在一组27名患有MPN的墨西哥混血患者中，我们研究了7种分子标志物：BCR/ABL1融合基因、JAK2 V617F突变、JAK2外显子12突变、MPL W515L突变、MPL W515K突变以及钙网蛋白（CALR）外显子9缺失或插入。排除携带BCR/ABL1融合基因的患者。我们研究了14例原发性血小板增多症（ET）患者、8例真性红细胞增多症（PV）患者、4例原发性骨髓纤维化（MF）患者以及1例未分化MPN患者。

结果

我们发现12例携带JAK2 V617F突变的个体；其中5例临床分类为PV，5例为ET，1例为MF。1例携带MPL W515L突变的患者临床表现为ET。鉴定出5例携带CALR突变的患者，4例为ET，1例为MF。未发现携带MPL W515K突变或JAK2外显子12突变的个体。最一致的关系是PV与JAK2 V617F突变之间的关系（p = 0.01）。