Study of FLT3 and JAK2 mutations in myelodysplastic syndromes

• Grant number: 14/04969-9
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2014
• End date: December 31, 2014
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Fabíola Traina
• Grantee: Bruna Alves Fenerich
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

The identification of mutations in genes involved in the pathophysiology of hematologic malignancies may be an effective method for classification, diagnosis and assessment of prognosis of each patient. Myelodysplastic syndromes are a diverse group of clonal hematopoietic disorders, and its pathogenesis is related to a group of molecular changes. Some of these mutations result in constitutive activation of signaling pathways involved in hematopoiesis, resulting in inefficient hematopoiesis. The present study aims to investigate the presence of three mutations: V617F JAK2, FLT3-ITD and FLT3-D835 in patients treated at the Hospital of FMRP - USP. Detection of mutant genotypes will be made through extraction of DNA from samples of peripheral blood or bone marrow; amplification of regions of interest by polymerase chain reaction (PCR) to FLT3-ITD mutation and PCR-RFLP for JAK2 and FLT3-D835. The results are descriptive, since they describe the presence or absence of a mutation and the MDS classification according to The World Health Organization (WHO) classification system.