JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.
JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage. Initial hematologic data of these patients differ from those of V617F-positive patients, but there is no difference in thrombotic development and myelofibrotic transformation.
Department of Pathology, Hospital del Mar, IMAS, Barcelona, Spain.
Luz
L
Martínez-Avilés
Carles
C
Besses
Alberto
A
Alvarez-Larrán
Francisco
F
Cervantes
Juan Carlos
JC
Hernández-Boluda
Beatriz
B
Bellosillo
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D020125:Mutation, Missense; D022423:Myeloid Cells / Q000201:enzymology; D011086:Polycythemia / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D011087:Polycythemia Vera / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D055728:Primary Myelofibrosis / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D013927:Thrombosis / Q000201:enzymology / Q000209:etiology / Q000235:genetics
C507924:JAK2 protein, human; D053614:Janus Kinase 2