title: The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia chromosome-negative myeloproliferative neoplasms.
abstract: 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.
authors: Centro de Hematología y Medicina Interna de Puebla, Mexico; Universidad Popular Autónoma del Estado de Puebla, Mexico.
authors: Nancy
authors: N
authors: Labastida-Mercado
authors: Centro de Hematología y Medicina Interna de Puebla, Mexico; Universidad Popular Autónoma del Estado de Puebla, Mexico.
authors: Samantha
authors: S
authors: Galindo-Becerra
authors: Universidad Popular Autónoma del Estado de Puebla, Mexico; Laboratorios Clínicos de Puebla, Mexico.
authors: Javier
authors: J
authors: Garcés-Eisele
authors: Universidad Autónoma de Nuevo León, Mexico.
authors: Perla
authors: P
authors: Colunga-Pedraza
authors: Universidad Popular Autónoma del Estado de Puebla, Mexico.
authors: Valeria
authors: V
authors: Guzman-Olvera
authors: Laboratorios Clínicos de Puebla, Mexico.
authors: Virginia
authors: V
authors: Reyes-Nuñez
authors: Centro de Hematología y Medicina Interna de Puebla, Mexico; Universidad Popular Autónoma del Estado de Puebla, Mexico; Laboratorios Clínicos de Puebla, Mexico.
authors: Guillermo J
authors: GJ
authors: Ruiz-Delgado
authors: 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.
authors: Guillermo J
authors: GJ
authors: Ruiz-Argüelles
mesh_terms: D037282:Calreticulin / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008800:Mexico; D009196:Myeloproliferative Disorders / Q000235:genetics*; D010677:Philadelphia Chromosome; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C576483:CALR protein, human; D037282:Calreticulin; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: CAL-R mutations; JAK2 V617F mutation; JAK2 exon 12 mutation; MPL W515K mutation; MPL W515L mutation; Molecular markers; Myeloproliferative neoplasms