JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a major referral center in Lebanon

Rami A R Mahfouz 1Rouba HoteitZiad SalemAli BazarbachiAnas MugharbelFadi FarhatAzzam ZiyadehAhmad IbrahimAli Taher

Affiliation

1Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. rm11@aub.edu.lb

PMID: 21198321

 DOI: 10.1089/gtmb.2010.0136

Abstract

Aims: JAK2 V617F mutation is gaining more acceptance in laboratory testing as part of the differential diagnosis work-up of myeloproliferative disorders (MPD). This report is the first of its kind from Lebanon that analyzes the distribution of this mutation among a series of referred cases to a major tertiary referral center.

Methods: Real-time polymerase chain reaction using JAK2 V617F MutaScreen assay (IPSOGEN Cancer Profiler) was performed on 229 patients.

Results: JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias.

Conclusion: Our unique study in this sample of Lebanese patients shows extensive similarities of positivity of JAK2 V617F as compared with the international literature and for the same categories of clinical entities. This will constitute a baseline for future clinical studies that would also help determine prognosis of cases based on the absence or presence of this mutation.