title: The Prevalence of JAK2, MPL, and CALR Mutations in Chinese Patients With BCR-ABL1-Negative Myeloproliferative Neoplasms.
abstract: OBJECTIVE
  To evaluate the mutation frequency of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 and the value of the combined tests in the diagnosis of BCR-ABL1-negative myeloproliferative neoplasms (MPNs).
  
  
  METHODS
  In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us).
  
  
  RESULTS
  Our result showed that the positive rate of any of four mutations in patients with PV, ET, PMF, and MPN-U was 89.3%, 83.4%, 87.2%, and 77.5%, respectively, which significantly improved the diagnostic rate, especially in ET and PMF. Meanwhile, we also found that the patients without any of four mutations were younger than those with one or more mutations. Unexpectedly, the coexistence of JAK2 V617F and CALR exon 9 was identified in six (0.6%) patients, and JAK2 V617F and MPL exon 10 were present simultaneously in two (0.2%) patients. In addition, we also identified several novel mutation types in CALR exon 9.
  
  
  CONCLUSIONS
  The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 help improve the diagnostic rate for BCR-ABL1-negative MPN.
authors.affiliation: From the Department of Pathology.
authors.forename: Yani
authors.initials: Y
authors.lastname: Lin
authors.affiliation: From the Department of Pathology.
authors.forename: Enbin
authors.initials: E
authors.lastname: Liu
authors.affiliation: From the Department of Pathology.
authors.forename: Qi
authors.initials: Q
authors.lastname: Sun
authors.affiliation: From the Department of Pathology.
authors.forename: Jiao
authors.initials: J
authors.lastname: Ma
authors.affiliation: From the Department of Pathology.
authors.forename: QingHua
authors.initials: Q
authors.lastname: Li
authors.affiliation: From the Department of Pathology.
authors.forename: Zeng
authors.initials: Z
authors.lastname: Cao
authors.affiliation: From the Department of Pathology.
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.affiliation: From the Department of Pathology.
authors.forename: Yujiao
authors.initials: Y
authors.lastname: Jia
authors.affiliation: From the Department of Pathology.
authors.forename: Hongju
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Medical Service.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Song
authors.affiliation: From the Department of Pathology.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Ai
authors.affiliation: From the Department of Pathology.
authors.forename: Lihui
authors.initials: L
authors.lastname: Shi
authors.affiliation: From the Department of Pathology.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Feng
authors.affiliation: Sunstem Biotechnology Company, Shanghai, China.
authors.forename: Chenwei
authors.initials: C
authors.lastname: Li
authors.affiliation: State Key Laboratory of Experimental Hematology, and Department of Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences, Tianjin, China, and.
authors.forename: Jianxiang
authors.initials: J
authors.lastname: Wang
authors.affiliation: From the Department of Pathology, kunru@yahoo.com.
authors.forename: Kun
authors.initials: K
authors.lastname: Ru
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D037282:Calreticulin / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D016044:Fusion Proteins, bcr-abl; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics*; D015995:Prevalence; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D055815:Young Adult
chemical_list: C576483:CALR protein, human; D037282:Calreticulin; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: CALR; Diagnosis; JAK2; MPL; MPN