[Expression of JAK2V617F and MPLW515L/K mutation in 30 suspected cases of early myeloproliferative disorders].
OBJECTIVE
To 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).


METHODS
Genomic 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.


RESULTS
Of 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.


CONCLUSIONS
JAK2V617F mutation could be one of the diagnosis criteria of early MPD. No MPLW515L/K expression was found in early MPD.
Fan
Zheng
Z
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Zhang
Ri
R
Shen
Yi-Min
YM
Fei
Hai-Rong
HR
Zhu
Zi-Ling
ZL
Cen
Jian-Nong
JN
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D042241:Early Diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D053628:Receptors, Thrombopoietin / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D053614:Janus Kinase 2