Saktini, Fanti and Faradz, Sultana MH and Santosa, Santosa (2012) CYTOGENETICS AND JAK2 V617F ANALYSIS IN, MYELOPROLIFERATIVE NEOPLASMS. Masters thesis, Universitas Diponegoro.

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Abstract

Background: Three subtypes of myeloproliferative neoplasms (MPNs): Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) showed overlapping phenotype. There has been no specific cytogenetic marker identified in these subtypes. JAK2 V617F mutation prevalence in Caucasian MPNs was first reported as 97% in PV, 57% in ET, and 50% in PMF. Objective: This study was done to define the prevalence of JAK2 V617F mutation and to identify cytogenetic markers in MPNs. Methods: The study design was cross-sectional. Patients admitted to Dr. Kariadi Hospital with clinical diagnosis of MPNs who were referred for bone marrow cytogenetic analysis in Telogorejo Hospital were tested for JAK2 V617F mutation using Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR) from venous peripheral blood. Clinical data were secondary data retrieved from hospital medical records. Results: Cytogenetic abnormality in Semarang MPNs patients was 0%. The prevalence of JAK2 V617F mutation in MPNs patients was 73,68%. Mutation prevalence distribution in each subtypes were 100% in PV, 63,6% in ET and 100% in PMF. Conclusion: There was no visible chromosomal abnormality observed using conventional cytogenetic analysis. More sensitive methods might elucidate submicroscopic chromosomal abnormalities in these patients. The prevalence of JAK2 V617F mutation was comparable with studies in Caucasian. It is recommended that JAK2 V617F testing should be incorporated in the management of MPNs in Indonesia. Keywords: ARMS-PCR, cytogenetic marker, JAK2 V617F, ET, MPN, Philadelphia chromosome, PMF, PV

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