Investigation of the etv6 gene mutations in patients with myelodysplastic Syndromes

• Grant number: 13/20657-4
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: January 01, 2014
• End date: December 31, 2014
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Fabíola Traina
• Grantee: Guilherme Gradim Fabron
• Host Institution: Centro de Hematologia e Hemoterapia (HEMOCENTRO). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 11/51959-0 - Biology of neoplastic diseases of bone marrow, AP.TEM

Abstract

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic cell changes, which have in common a reduction of one or more hematopoietic lineages. These diseases are responsible for, among others, cytopenias in peripheral blood and bone marrow hipercelularidades. This reduction is due to genetic abnormalities of clonal hematopoietic cells. These syndromes are frequent in the population, affecting more individuals above 70 years of age. Molecular analysis using mononuclear cells from marrow aspirate and oral mucosa scraping in adult patients with MDS have identified 18 mutations in different genes. Among them, abnormalities in the gene ETV6 (TEL) were frequent. This study aims to evaluate the presence of the ETV6 gene mutation in patients with myelodysplasia in the Hematology outpatient at UNICAMP, plus to correlate with the classification for myelodysplastic syndrome in these patients and evaluate its role in the clinical course and prognosis of the disease.