Nancy Labastida-Mercado1, Samantha Galindo-Becerra1, Javier Garcés-Eisele2, Perla Colunga-Pedraza3, Valeria Guzman-Olvera4, Virginia Reyes-Nuñez5, Guillermo J Ruiz-Delgado6, Guillermo J Ruiz-Argüelles7. 1. Centro de Hematología y Medicina Interna de Puebla, Mexico; Universidad Popular Autónoma del Estado de Puebla, Mexico. 2. Universidad Popular Autónoma del Estado de Puebla, Mexico; Laboratorios Clínicos de Puebla, Mexico. 3. Universidad Autónoma de Nuevo León, Mexico. 4. Universidad Popular Autónoma del Estado de Puebla, Mexico. 5. Laboratorios Clínicos de Puebla, Mexico. 6. Centro de Hematología y Medicina Interna de Puebla, Mexico; Universidad Popular Autónoma del Estado de Puebla, Mexico; Laboratorios Clínicos de Puebla, Mexico. 7. Centro de Hematología y Medicina Interna de Puebla, Mexico; Universidad Popular Autónoma del Estado de Puebla, Mexico; Laboratorios Clínicos de Puebla, Mexico; Universidad de Las Américas Puebla, Mexico. Electronic address: gruiz1@clinicaruiz.com.
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.
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 MPLW515L mutation, the MPLW515K 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 MPLW515L 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 MPLW515K 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.
Authors: Razan Hayati Zulkeflee; Zefarina Zulkafli; Muhammad Farid Johan; Azlan Husin; Md Asiful Islam; Rosline Hassan Journal: Int J Environ Res Public Health Date: 2021-07-16 Impact factor: 3.390