PMID- 20417861
OWN - NLM
STAT- MEDLINE
DCOM- 20100504
LR  - 20131121
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 199
IP  - 1
DP  - 2010 May
TI  - A new potential oncogenic mutation in the FERM domain of JAK2 in 
      BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms 
      revealed by a comprehensive screening of 17 tyrosine kinase coding genes.
PG  - 1-8
LID - 10.1016/j.cancergencyto.2010.01.002 [doi]
AB  - BCR/ABL1-negative chronic myeloproliferative neoplasms (CMPNs) are a 
      heterogeneous group of clonal hematological malignancies. Over recent years, some 
      genetic events in tyrosine kinase (TK) genes have been described as causal events 
      of these diseases. To identify new genetic aberrations underlying these diseases, 
      we used denaturing high performance liquid chromatography and fluorescence in 
      situ hybridization (FISH) to analyze 17 genes from two receptor-TK families (III 
      and IV) and from three cytoplasmic-TK families (Syk, Abl, and Jak) on samples 
      from 44 BCR/ABL1-negative and JAK2(V617F)-negative CMPN patients with different 
      clinical phenotypes. Although screening by FISH did not reveal novel chromosomal 
      aberrations, several sequence changes were detected. None of them were frequent 
      events, but we identified a new potential activating mutation in the FERM domain 
      of JAK2(R340Q). None of the germline JAK2(V617F) single-nucleotide polymorphisms 
      detected differed in distribution between patients and control subjects. In 
      summary, data presented here show that these genes are not frequently mutated or 
      rearranged in CMPNs, suggesting that molecular events causing these disorders 
      must be located in other genes.
CI  - 2010 Elsevier Inc. All rights reserved.
FAU - Aranaz, Paula
AU  - Aranaz P
AD  - Department of Genetics, University of Navarra, Pamplona, Spain.
FAU - Ormazabal, Cristina
AU  - Ormazabal C
FAU - Hurtado, Cristina
AU  - Hurtado C
FAU - Erquiaga, Ignacio
AU  - Erquiaga I
FAU - Calasanz, Maria J
AU  - Calasanz MJ
FAU - Garcia-Delgado, Marina
AU  - Garcia-Delgado M
FAU - Novo, Francisco J
AU  - Novo FJ
FAU - Vizmanos, Jose L
AU  - Vizmanos JL
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
RN  - EC 2.7.10.2 (Janus Kinase 2)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Case-Control Studies
MH  - Chronic Disease
MH  - Exons/genetics
MH  - Female
MH  - Fusion Proteins, bcr-abl/*metabolism
MH  - Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Janus Kinase 2/*chemistry/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation/*genetics
MH  - Myeloproliferative Disorders/*enzymology/*genetics
MH  - Oncogenes/*genetics
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Protein Structure, Tertiary
EDAT- 2010/04/27 06:00
MHDA- 2010/05/05 06:00
CRDT- 2010/04/27 06:00
PHST- 2009/10/15 00:00 [received]
PHST- 2009/12/14 00:00 [revised]
PHST- 2010/01/03 00:00 [accepted]
PHST- 2010/04/27 06:00 [entrez]
PHST- 2010/04/27 06:00 [pubmed]
PHST- 2010/05/05 06:00 [medline]
AID - S0165-4608(10)00003-8 [pii]
AID - 10.1016/j.cancergencyto.2010.01.002 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2010 May;199(1):1-8. doi: 
      10.1016/j.cancergencyto.2010.01.002.