Abstract
It is well known that JAK2V617F mutation (JAK2 V617F) is found in many but not all the chronic myeloproliferative disease (CMPD) patients. Many questions remains unsolved in CMPD and JAK2 mutation, such as why a single JAK2 mutation cause different CMPD phenotypes, and what other hits are needed in these diseases. Recently novel JAK2 deletion and mutation were found in CMPD without JAK2 V617F (
NEJM
2007
;356
:459
–468Cell
; 1999
;98
:617
–627Int J Hematol
. 2006
;83
:443
–449Vannucchi et al. (
) that there was a meaningful correlation between the proportion of mutant JAK2 allele and the propensity to a symptomatic disease in PV patients. Next, we performed mutation analyses of the JAK2, EPOR and SOCS-3 genes. In the analysis of the JAK2 exon 12, we found a novel mutation and deletion in a PV patient that had G to A conversion at nucleotide 1621 resulting in substitution of arginine to lysine at amino acid position 541 and had deletion at nucleotide position 1625 to 1630 (E543-D544 deletion) (JAK2R541K E543-D544 del). JAK2 E543-D544 deletion was in the next codon of the deletion in JAK2 exon 12 previously reported. A novel EPOR gene mutation was detected at amino acid position 478 (CCC to CGC) leading to substitution of proline to arginine (EPORP478R) in two ET patients. EPORP478R was located within SOCS binding site, and we speculate that EPORP478R affected SOCS-3 binding ability to EPOR. No SOCS-3 gene mutation was detected. Our study indicates that JAK2R541K E543-D544 del and EPORP478R may contribute to the pathogenesis of CMPD in a subset of JAK2V617F negative patients.ASH Annual Meeting Abstracts
. 2006
;108
:5
–Author notes
Disclosure: No relevant conflicts of interest to declare.
2007, The American Society of Hematology
2007
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