title: Correlation between JAK2 allele burden and pulmonary arterial hypertension and hematological parameters in Philadelphia negative JAK2 positive myeloproliferative neoplasms. An Egyptian experience.
abstract: Myeloproliferative neoplasms are characterized by a common stem cell-derived clonal proliferation, but are phenotypically diverse. JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Pulmonary arterial hypertension (PAH) is a major complication of several hematological disorders. Chronic myeloproliferative disorders associated with PAH have been included in group five for which the etiology is unclear and/or multifactorial. The aim of this study is to screen Egyptian Philadelphia negative JAK2 positive myeloproliferative neoplasm patients for the presence of PAH and its correlation with JAK2 allele burden. We also made a review for correlation of JAK2 allele with hematological parameters comparing our results to others. We enrolled 60 patients with Philadelphia negative myeloproliferative neoplasms. All patients enrolled in the study were subjected to laboratory and imaging workup in the form of CBC, liver, kidney profile, bone marrow examination, abdominal ultrasonography, and transthoracic echocardiography. Our results revealed that 7 patients out of 60 (11.67 %) had pulmonary arterial hypertension, 3 patients with PMF, 2 patients with PRV, and 2 patients with ET, and its correlation with JAK2 allele burden was not statistically significant. Correlation analysis between JAK2 V617F allele burden and other parameters revealed: statistical significant correlation with age, HB, HCT, PLT, UA, LDH, and splenic diameter but insignificant correlation with WBCs and PAH. Pulmonary arterial hypertension prevalence in our study was 11.67 % and no significant correlation with JAK 2 allele burden. Our study is the largest one up to our knowledge that studies the association between its prevalence and JAK2 burden.
authors.affiliation: Clinical Hematology Unit, Internal Medicine, Cairo, Egypt.
authors.forename: Mervat M
authors.initials: MM
authors.lastname: Mattar
authors.affiliation: Clinical Hematology Unit, Internal Medicine, Cairo, Egypt.
authors.forename: Mohammed Abdel Kader
authors.initials: MA
authors.lastname: Morad
authors.affiliation: Clinical Hematology Unit, Internal Medicine, Cairo, Egypt. Noha_el_husseiny77@yahoo.com.
authors.forename: Noha M
authors.initials: NM
authors.lastname: El Husseiny
authors.affiliation: Cardiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Noha H
authors.initials: NH
authors.lastname: Ali
authors.affiliation: Clinical Hematology Unit, Internal Medicine, Cairo, Egypt.
authors.forename: Doaa M
authors.initials: DM
authors.lastname: El Demerdash
mesh_terms: D000328:Adult; D000483:Alleles; D004534:Egypt / Q000453:epidemiology; D004909:Erythrocyte Indices; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D006976:Hypertension, Pulmonary / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics; D053614:Janus Kinase 2 / Q000235:genetics*; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009196:Myeloproliferative Disorders / Q000097:blood / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D015995:Prevalence
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: JAK2 mutation; Myeloproliferative neoplasm; Pulmonary hypertension