Evaluation of JAK2 V617F mutation and BCR-ABL translocation status in the work-up of MPN: A hospital-based study in Lebanon

Autor: Noha Hakime, Ghada Saidy, Isabelle Djaffar-Jureidini, L. El Halabi, Nabil Chamseddine
Rok vydání: 2015
Předmět:
Zdroj: Clinical Lymphoma Myeloma and Leukemia. 15:S237
ISSN: 2152-2650
DOI: 10.1016/j.clml.2015.04.129
Popis: Context: With the advent of targeted therapy, the identification of JAK2 gene V617F mutation and BCR-ABL translocation has changed the course of myeloproliferative Neoplasias (MPN). Objective: The aim of the study was to assess the prevalence of the JAK2 mutation and BCR-ABL translocation in patients referred to Saint George Hospital, Beirut, Lebanon for suspicion of MPN. Methods: JAK2 V617F mutation was screened using allele-specific PCR. Fusion gene transcripts for BCR-ABL translocation were analyzed according to standardized RT-PCRs following the report of BIOMED-1 concerted action (Leukemia 1999). Results: BCR-ABL translocation and JAK2 mutation were examined in 760 consecutive patients referred for MPN suspicion. Out of these, 38.51% were positive for JAK2 V617F and 13.81% for BCR-ABL translocation and 0.13% positive for both JAK2 and BCR-ABL (P210 b3a2) while 47.55% were negative. Fusion transcript analysis of BCR-ABL corresponding to P210 was 97.4% (60.5% b3a2, 39.5% b2a2), P190 was 1.3% (e1a2) and P230 was 1.3%. Conclusion: To our knowledge, the presented epidemiological data are the first ones reported in the Lebanese population. These results confirm the value of including additional markers in the work-up of MPN to cover some of the negative cases. JAK2 exon 12/exon13, MPL, calreticulin genes mutations are currently evaluated worldwide. Our next step will be to implement those new markers in order to evaluate their prevalence and their benefit in our population.
Databáze: OpenAIRE
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