Coexistence of JAK2 and BCR-ABL mutation in patient with myeloproliferative neoplasm

Abdulaziz Hassan; Livingstone Gayus Dogara; Ahmadu Aliyu Babadoko; Sani Awwalu; Aisha Indo Mamman

doi:10.4103/0300-1652.149177

Coexistence of JAK2 and BCR-ABL mutation in patient with myeloproliferative neoplasm

Niger Med J. 2015 Jan-Feb;56(1):74-6. doi: 10.4103/0300-1652.149177.

Authors

Abdulaziz Hassan¹, Livingstone Gayus Dogara¹, Ahmadu Aliyu Babadoko¹, Sani Awwalu¹, Aisha Indo Mamman¹

Affiliation

¹ Department of Haematology, Ahmadu Bello University Teaching Hospital, Zaria, Nigeria.

Abstract

The World Health Organisation (WHO) classifies myeloproliferative neoplasm (MPN) into BCR-ABL positive chronic myeloid leukaemia (CML Ph(+)) and Ph(-) MPN. The JAK2 V617F mutation is specific for Ph(-) MPN and occurs in approximately 50% of primary myelofibrosis. Earlier reports suggest that the occurrence of JAK2 and BCR-ABL mutations are mutually exclusive. However, recent reports have documented the coexistence of BCR-ABL and JAK2 mutation in the same patient mostly following treatment with tyrosine kinase inhibitors (TKIs). We thus report a 60-year-old male with atypical clinical and laboratory features of MPN and the presence of both BCR-ABL and JAK2 Mutations.

Keywords: BCR-ABL; CML; JAK2; mutation; myelofibrosis.