PMID- 19819015
OWN - NLM
STAT- MEDLINE
DCOM- 20100607
LR  - 20131121
IS  - 1873-5835 (Electronic)
IS  - 0145-2126 (Linking)
VI  - 34
IP  - 6
DP  - 2010 Jun
TI  - JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in 
      genetically discordant clones.
PG  - 821-3
LID - 10.1016/j.leukres.2009.09.016 [doi]
AB  - The 2008 World Health Organization (WHO) proposed revision of the classification 
      of MDS recognizes a deletion (5q) subtype with mutation of Janus kinase-2 
      (JAK2(V617F)). We investigated the clonal origin of this gene mutation in a 
      patient with del(5q) MDS presenting with thrombocytosis and normal hemoglobin. 
      Analysis of colony forming units-granulocyte-monocyte (CFU-GM) and 
      erythropoietin-independent growth of bone marrow (BM) and peripheral blood (PB) 
      burst forming units-erythroid (BFU-E) showed that del(5q) and JAK2(V617F) existed 
      in progenitors derived from independent clones. Fifty percent of endogenous 
      erythroid colonies (EEC) harbored the JAK2(V617F) mutation whereas fluorescent in 
      situ hybridization (Fish) with a chromosome 5 (q31.1) probe showed only a diploid 
      allele compliment. Assessment of transcriptional clonality by 
      iduronate-2-sulfatase (IDS) gene polymorphism suggested that JAK2(V617F) was 
      acquired in at least two independent multipotent stem cell progeny. Our findings 
      indicate that JAK2(V617F) mutant clones may arise in genetically discordant 
      clones independent of del(5q).
CI  - Copyright 2009 Elsevier Ltd. All rights reserved.
FAU - Sokol, L
AU  - Sokol L
AD  - Department of Malignant Hematology, Moffitt Cancer Center, Tampa, FL 33612, USA. 
      Lubomir.Sokol@moffitt.org
FAU - Caceres, G
AU  - Caceres G
FAU - Rocha, K
AU  - Rocha K
FAU - Stockero, K J
AU  - Stockero KJ
FAU - Dewald, D W
AU  - Dewald DW
FAU - List, A F
AU  - List AF
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20091009
PL  - England
TA  - Leuk Res
JT  - Leukemia research
JID - 7706787
RN  - 47E5O17Y3R (Phenylalanine)
RN  - EC 2.7.10.2 (JAK2 protein, human)
RN  - EC 2.7.10.2 (Janus Kinase 2)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Amino Acid Substitution
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 5
MH  - Clone Cells/metabolism/*pathology
MH  - Erythroid Precursor Cells/metabolism/pathology
MH  - Female
MH  - Humans
MH  - Janus Kinase 2/*genetics
MH  - Middle Aged
MH  - Mutation, Missense/physiology
MH  - Myelodysplastic Syndromes/*genetics/pathology
MH  - Phenylalanine/genetics
MH  - Valine/genetics
EDAT- 2009/10/13 06:00
MHDA- 2010/06/09 06:00
CRDT- 2009/10/13 06:00
PHST- 2009/07/20 00:00 [received]
PHST- 2009/09/12 00:00 [revised]
PHST- 2009/09/12 00:00 [accepted]
PHST- 2009/10/13 06:00 [entrez]
PHST- 2009/10/13 06:00 [pubmed]
PHST- 2010/06/09 06:00 [medline]
AID - S0145-2126(09)00476-7 [pii]
AID - 10.1016/j.leukres.2009.09.016 [doi]
PST - ppublish
SO  - Leuk Res. 2010 Jun;34(6):821-3. doi: 10.1016/j.leukres.2009.09.016. Epub 2009 Oct 
      9.