GATA2 gene mutation in patients with bone marrow failure syndromes

Author(s)

Gustavo Borges

• Document type: Master's Dissertation
• Press: Ribeirão Preto.
• Institution: Universidade de São Paulo (USP). Faculdade de Medicina de Ribeirão Preto (PCARP/BC)
• Defense date: 2016-12-16

Examining board members

Rodrigo do Tocantins Calado de Saloma Rodrigues; Luiz Fernando Lopes; Wilson Araújo da Silva Junior

• Advisor: Rodrigo do Tocantins Calado de Saloma Rodrigues

Abstract

Cytopenia is an important signal of marrow failure, being commom to various diseases, among them myelodysplasia and aplastic anemia. Myelodysplasia is a group of hematopoietic clonal disorders, with inneficient hematopoiesis, cellular bone marrow with associated cytopenias. The aplastic anemia presents a hypo or even acellular bone marrow without any evidence of neoplastic infiltration with the stem cells being substituted by fat. The GATA2 gene is a key regulator of hematopoiesis, also acting on the maintenance and proliferation of stem and progenitor cells. Recently, constitutional mutations in the GATA2 gene were described in MonoMAC syndrome, which eventually presents cytopenias, hypocellular marrow or even myelodysplasia. However, the contribution of GATA2 mutations for the development of acquired aplastic anemia or myelodysplasia is not known. In this work we aim to search for GATA2 gene mutations in patients with acquired aplastic anemia and myelodysplasia through Sanger sequencing. Also, we will evaluate the levels of subpopulations of lymphocytes and the plasmatic levels of cytokines to establish a correlation between the presence of mutation in the GATA2 and a specific immune profile (AU)

• FAPESP's process: 14/26379-9 - Mutational analysis of GATA2 gene and immunological alterations in patientes with bone marrow failure
• Grantee: Gustavo Borges
• Support Opportunities: Scholarships in Brazil - Master