Prevalence and clinical utility of JAK2 V617F mutant allele among myeloproliferative neoplasms patients in Gaza Strip

Other Title(s)

معدل الانتشار و الفائدة الاكلينيكية لطفرة JAK2 V617F بين مرضى أورام التكاثر النقيي في قطاع غزة

Dissertant

al-Adham, Muhammad Mahmud Sabri

Thesis advisor

Yasin, Majid Muhammad
Ayish, Basim Muhammad

Comitee Members

al-Uwayni, Saib Husayn
al-Habibi, Mahmud Ismail

University

Islamic University

Faculty

Faculty of Science

Department

Medical Technology Department

University Country

Palestine (Gaza Strip)

Degree

Master

Degree Date

2015

English Abstract

Background Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell malignancies.

Classical Philadelphia negative MPNs comprise various disorders including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF).

The JAK2 V617F mutation was identified among MPNs patients in 2005 using a variety of different methods.

The discovery of activating point mutation JAK2 V617F provided a molecular basis for understanding the pathophysiology and development of Philadelphia negative MPNs and represents a diagnostic breakthrough for these disorders.

Objectives The aim of the present study was to investigate the prevalence and clinical utility of JAK2 V617F mutant allele among myeloproliferative neoplasms patients in Gaza strip.

Methods Peripheral blood samples were collected from 60 patients with Philadelphia negative MPNs (15 PV, 9 familial PV, 29 ET and 7 PMF) recruited from Hematology and Oncology Department and Outpatient Clinic of Al-Shifa Medical Complex.

DNA was isolated from peripheral blood leukocytes and JAK2 V617F mutation was detected using allele specific polymerase chain reaction (AS-PCR).

Laboratory parameters including CBC, serum iron profile, vitamin B12, folic acid and LDH were analyzed for all patients and their clinical data were obtained from patient’s medical records.

Results The overall prevalence of JAK2 V617F was 56.7% in MPNs, (86.7%) in PV, (0.0%) in familial PV, (62.1%) in ET and (42.9%) in PMF.

The JAK2 V617F positivity was significantly correlated with higher WBCs count, RBCs count and HCT value in MPNs and with higher RBCs count and iron deficiency in PV and with higher RBCs and splenomegaly in ET.

Other parameters such as age, gender disease duration, hemoglobin, platelets counts, serum ferritin, vitamin B12, folic acid, LDH and liver size did not show statistically significant differences between positive and negative JAK2 V617F in ET.

When compared sporadic and familial PV patients according to clinical and laboratory parameters, age, RBCs count, MCV and platelets count showed statistically significant differences.

During comparison of hematological and clinical parameters between male and female patients with JAK2 V617F mutation, the RBCs count, Hb, HCT, MCV and iron saturation exhibited statistically significant differences between JAK2 V617F positive and negative males.

In addition, there were statistically significant differences in RBCs count, RDW and spleen size between females positive and negative for JAK2 V617F mutation.

Conclusion: The prevalence of the JAK2 V617F mutation among the MPNs and their distinct subtypes comes in accordance with literature data and was found to be associated with iron deficiency among PV and with higher leukocyte and erythrocyte counts in MPNs in general.

Screening for JAK2 V617F mutation should be incorporated into the initial evaluation of patients suspected to have MPNs, a conclusion that is supported by WHO recommended criteria.

Main Subjects

Biology

No. of Pages

96

Table of Contents

• APA
• MLA
• AMA

Language

English

Data Type

Arab Theses

Record ID

BIM-688524