Diagnostic usefulness of the Janus kinase 2 mutation in non BCR/ABL myeloproliferative disorders.
BACKGROUND
We investigated the Janus kinase 2 (JAK2) mutation and its diagnostic value in patients suffering with non BCR/ABL myeloproliferative diseases (nMPD) or other reactive conditions.


METHODS
We reviewed the clinical records of 83 patients who underwent bone marrow (BM) examinations with suspect of nMPD. The diagnoses of nMPD were made based on the WHO criteria since 2001 and the PVSG criteria before 2001. The JAK2 mutation was examined by PCR in 54 patients whose BM samples were available.


RESULTS
The JAK2 mutation was detected in 25 patients (46%); 12 of 26 patients with essential thrombocythemia (ET), 9 of 12 patients with polycyhtemia vera (PV), one of 7 patients with chronic idiopathic myelofibrosis (CIM) and one patient with unclassifiable MPD. Additionally, JAK2 mutation was detected in each one patient with secondary polycythemia and reactive thrombocytosis. These two patients and two other patients among the JAK2 mutated ET did not meet the WHO PV criteria due to their initial low hemoglobin levels. These patients had liver cirrhosis and hypersplenism due to Budd-Chiari syndrome (1), gastrointestinal bleeding (1) or the initial hemoglobin level was slightly below the level as provided by the criteria, but the level showed a rising pattern despite cytoreductive therapy (2). With the results of the JAK2 mutation available, 4 patients' disease could be re-diagnosed as PV. Finally, the positive rate of the JAK2 mutation was 81% in PV, 48% in ET and 14% in CIM. The presence of JAK2 mutation closely correlated with PV (p = 0.001), leukocytosis (0 = 0.001) and an increased cellularity of BM (p=0.024).


CONCLUSIONS
The JAK2 mutation may help differentiate nMPD from secondary cytosis. Therefore, it should be incorporated into the guidelines for the nMPD work-up for making a more accurate diagnosis and administering proper treatment.
Bang
Soo-Mee
SM
Department of Internal Medicine, Gil Medical Center, Gachon Medical School, Incheon, Korea.
Ahn
Jeong Yeal
JY
Park
Jiyoon
J
Yoo
Soo Jin
SJ
Park
Se Hoon
SH
Nam
Eun Mi
EM
Park
Pil Whan
PW
Seo
Yiel Hea
YH
Cho
Eun Kyung
EK
Shin
Dong Bok
DB
Lee
Jae Hoon
JH
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D016313:Genes, abl; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D016133:Polymerase Chain Reaction; D051562:Proto-Oncogene Proteins c-bcr; D012189:Retrospective Studies
D015415:Biomarkers; D004247:DNA; D053614:Janus Kinase 2; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr