ASSESSMENT OF JAK2 MUTATION IN TUNISIAN PATIENTS WITH BCR-ABL1-
POSTER 34
NEGATIVE MYELOPROLIFERATIVE NEOPLASMS
Rim Frikha and Hassen Kamoun
Medical Genetic department, Sfax, Tunisia
Objective: JAK2V617F is an essential diagnostic marker of myeloproliferative neoplasms and
is associated with differences in the phenotypes of these disorders.
This study was carried out to analyze the JAK2V617F gene mutation in the Tunisian patients
with chronic myeloproliferative neoplasm (MPN).
Methods: The peripheral blood of patients was collected and the genomic DNA was exacted.
the JAK2 V617F mutation was detected by using allele specific PCR.
Results: The JAK2V617F mutation was detected in 33 patients out of 45 MPN patients (73.3%).
JAK2V617F positive was 76.2% (16/21) polycythemia vera (PV); 75% (9/12) essential
thrombocythemia (ET) and 66.7% (8/12) primary myelofibrosis (PMF) patients respectively,
which significantly improved the diagnostic rate, especially in ET and PMF.
Conclusion: Despite the limit of our study, it underscores the importance of JAK2 genotyping
for accurate diagnosis of patients with BCR-ABL1-negative MPN. Data from a larger number
of patients are needed to reveal the clinical relevancy of JAK2 V617F in Tunisian patients.
SCIENTIFIC PROGRAMME
SESSION I
OPTIMIZING
CYTOREDUCTION
SESSION II
MANAGEMENT OF CML
WITH TKI
SESSION III
MPN RISK
STRATIFICATION
INCLUDING VASCULAR
EVENTS
DEBATE 1
INTERFERON ALPHA
SHOULD BE FRONT LINE
THERAPY IN ALL ET/PV
PATIENTS
ROUNDTABLE 1
INFECTIONS IN
MYELOPROLIFERATIVE
DISORDERS, INCLUDING
CML
ROUNDTABLE 2
PREGNANCY AND
PARENTING
DEBATE 2
ALLOGENEIC STEM CELL
TRANSPLANTATION
SHOULD BE CONSIDERED
THIRD LINE OPTION IN
CHRONIC PHASE CML
SESSION IV
EVOLVING THERAPIES
IN MYELOFIBROSIS
SESSION V
MANAGEMENT OF
ADVANCED AND UNUSUAL
DISEASE (MPN AND CML)
SESSION VI
TREATMENT FREE
REMISSION IN CML
KEYNOTE LECTURE
SELECTED ABSTRACTS
FOR AN ORAL
PRESENTATION
SELECTED ABSTRACTS
FO R A POSTER
PRESENTATION
DISCLOSURES