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

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 ge...

Full description

Saved in:
Bibliographic Details
Published in:Hematology/oncology and stem cell therapy 2015-03, Vol.8 (1), p.16-21
Main Authors: 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
Format: Article
Language:English
Subjects:
CAL-R mutations
Calreticulin - genetics
DNA Mutational Analysis
Hematology, Oncology and Palliative Medicine
Humans
JAK2 exon 12 mutation
JAK2 V617F mutation
Janus Kinase 2 - genetics
Mexico
Molecular markers
MPL W515K mutation
MPL W515L mutation
Myeloproliferative Disorders - genetics
Myeloproliferative neoplasms
Philadelphia Chromosome
Receptors, Thrombopoietin - genetics
Reverse Transcriptase Polymerase Chain Reaction
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1658-3876
DOI:10.1016/j.hemonc.2014.12.002