Expression of JAK2V617F and MPLW515L/K mutation in 30 suspected cases of early myeloproliferative disorders.
- Author:
Zheng FAN
1
;
Ri ZHANG
;
Yi-Min SHEN
;
Hai-Rong FEI
;
Zi-Ling ZHU
;
Jian-Nong CEN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Aged, 80 and over; Early Diagnosis; Female; Follow-Up Studies; Humans; Janus Kinase 2; genetics; metabolism; Male; Middle Aged; Mutation; Myeloproliferative Disorders; diagnosis; genetics; metabolism; Receptors, Thrombopoietin; genetics; metabolism; Young Adult
- From: Chinese Journal of Hematology 2008;29(9):611-614
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the prevalence of JAK2V617F and MPLW515L/K mutation in patients with slightly elevated platelets (BPC) or hemoglobin (Hb) not meeting the criteria of polycythemia vera (PV) or essential thrombocythemia (ET).
METHODSGenomic DNA from bone marrow or blood mononuclear cells was screened with allele specific polymerase chain reaction (AS-PCR) for JAK2V617F and MPLW515L/K mutation. The history of thrombosis was assessed retrospectively by patients files.
RESULTSOf 30 patients, 14 (46.7%) were positive for the JAK2V617F mutation, none of them had the MPLW515L/ K. Five of these 14 patients had a history of thrombosis. Follow-up results were available in 22 patients. Among them, 12 patients with JAK2V617F mutation turned out to be MPD in 6-24 months; only 2 out of 10 patients without this mutation evolved to MPD.
CONCLUSIONJAK2V617F mutation could be one of the diagnosis criteria of early MPD. No MPLW515L/K expression was found in early MPD.
