title: The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia.
abstract: OBJECTIVE
  Calreticulin (CALR) plays important roles in cell proliferation, apoptosis, and immune responses. CALR mutations were described recently in Janus kinase 2 gene (JAK2)-negative or MPL-negative primary myelofibrosis (PMF) and essential thrombocythemia (ET) patients. CALR trails JAK2 as the second most mutated gene in myeloproliferative neoplasms (MPNs). However, little is known about CALR mutation in Chinese patients with leukemia. In the present study, a cohort of 305 Chinese patients with hematopoietic neoplasms was screened for CALR mutations, with the aim of uncovering the frequency of CALR mutations in leukemia and MPNs.
  
  
  METHODS
  Polymerase chain reaction and direct sequencing were performed to analyze mutations of CALR in 305 patients with hematopoietic malignancies, including 135 acute myeloid leukemia patients, 57 acute lymphoblastic leukemia patients, and 113 MPN patients.
  
  
  RESULTS
  CALR mutations were found in 10.6% (12 of 113) of samples from patients with MPNs. CALR mutations were determined in 11.3% (6 of 53), 21.7% (5 of 23), and 9.1% (1/11) of patients with ET, PMF, and unclassifiable MPN, respectively.
  
  
  CONCLUSIONS
  We showed that MPN patients carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels compared to those with mutated JAK2. However, all of the leukemia patients had negative results for CALR mutations.
authors.forename: Jingyi
authors.initials: J
authors.lastname: Wang
authors.forename: Jianguo
authors.initials: J
authors.lastname: Hao
authors.forename: Na
authors.initials: N
authors.lastname: He
authors.forename: Chunyan
authors.initials: C
authors.lastname: Ji
authors.affiliation: Qilu Hospital of Shandong University, Department of Hematology, Shandong, China, Phone: +86 531 82169887, E-mail: daoxinma@sdu.edu.cn.
authors.forename: Daoxin
authors.initials: D
authors.lastname: Ma
mesh_terms: D000328:Adult; D037282:Calreticulin / Q000235:genetics*; D002681:China; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*
chemical_list: C576483:CALR protein, human; D037282:Calreticulin