Detection of JAK2V617F mutation and its clinical significance in 80 patients with M2 acute myelogenous leukemia / 中华肿瘤杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the prevalence and prognostic significance of JAK2V617F gene mutation in acute myelogenous leukemia M2 (AML-M2) patients.</p><p><b>METHODS</b>Allele specific polymerase chain reaction (PCR) was used to detect JAK2 gene mutation.</p><p><b>RESULTS</b>Of 80 de novo AML-M2 patients, 6 at the time of first diagnosis and 1 at relapse were found to have JAK2V617F gene mutation (8.8%, 7/80). Morphologically, the whole blood and bone marrow of the 7 AML-M2 patients with JAK2V617F gene mutation presented a picture of acute leukemia instead of myeloproliferative disorders. Immunophenotypically, bone marrow samples showed myelogenous linage expression. Complete remission was obtained in 4 of 5 AML-M2 patients with JAK2V617F mutation who received treatment, while one patient had no response to the treatment. Follow-up was performed in all the 5 patients, with a median survival of 18.5 months in 4 patients.</p><p><b>CONCLUSION</b>JAK2V617F gene mutation, as a type-1 mutation, might not be an initial event in the pathogenesis of acute myelogenous leukemia, and its presentation does not mean a poor prognosis in de novo AML patients.</p>