The JAK2 V617F mutation in de novo acute myelogenous leukemias.
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. As activation of JAK2 signaling is occurred in other malignancies as well, we have analysed 558 tissues from common human cancers, including colon, breast and lung carcinomas, and 143 acute adulthood leukemias by polymerase chain reaction -- single strand conformation polymorphism analysis. We found three JAK2 mutations in the 113 acute myelogenous leukemias (AMLs) (2.7%), but none in other cancers. The mutations consisted of two V617F mutations and one K607N mutation. None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. This is the first report on the JAK2 gene mutation in AML, and the data indicated that the JAK2 gene mutation may not only contribute to the development of chronic myeloid disorders, but also to some AMLs.
Lee
J W
JW
Departments of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Kim
Y G
YG
Soung
Y H
YH
Han
K J
KJ
Kim
S Y
SY
Rhim
H S
HS
Min
W S
WS
Nam
S W
SW
Park
W S
WS
Lee
J Y
JY
Yoo
N J
NJ
Lee
S H
SH
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics; D002277:Carcinoma / Q000235:genetics; D018270:Carcinoma, Ductal, Breast / Q000235:genetics; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D053614:Janus Kinase 2; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008175:Lung Neoplasms / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011505:Protein-Tyrosine Kinases / Q000235:genetics* / Q000502:physiology; D011518:Proto-Oncogene Proteins / Q000235:genetics* / Q000502:physiology
D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2