Frequency of JAK2 V617F mutation in patients with Philadelphia positive Chronic Myeloid Leukemia in Pakistan

ABSTRACT

Co-existence of myeloproliferative disorders [MPD] and Janus associated kinase 2 mutation [JAK2 V617F] is a well-established fact. Only few case reports are available showing presence of JAK2 V617F mutation in chronic myeloid leukemia [CML]. Purpose of this study was to determine the frequency of JAK2 V617F mutation in Philadelphia Chromosome positive [Ph [+]] CML patients in Pakistan. The study was conducted from August 2009 to July 2010 at Civil Hospital and Baqai Institute of Hematology [BIH] Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction [RT-PCR] was performed for Breakpoint Cluster Region - Abelson [BCR-ABL] rearrangement. Conventional PCR was performed for JAK2 V617F mutation on BCR-ABL positive samples. All 25 samples showed BCR-ABL rearrangement. Out of these 11 samples [44%] had JAK2 V617F mutation; the remaining 14 [56%] cases showed JAK2 617V wild type. It is concluded that the co-existence of Ph [+]CML and JAK2 V617F mutation is possible