Unexplained cytopenias in an adolescent? You GATA think about it.

Abstract

Objectives: The GATA family of DNA binding proteins consists of six different transcription factors (GATA1-6), each with a diverse biologic function. The transcription factors GATA1-3 function primarily to orchestrate hematopoiesis; however, they have roles in non-hematopoietic cells as well. Much of our current knowledge of the GATA transcription factors has come through observation of disease states with known GATA mutations. The GATA2 protein has been shown to be vital for proliferation and maintenance of hematopoietic stem cells; mutations result in variable phenotypes including myelodysplastic syndrome. We present a case of a 19-year-old male with a history of pancytopenia and hypocellular bone marrow with dysplastic morphologic changes who underwent an extensive workup to determine an etiology. Molecular testing identified a germline GATA2 c.1081 C>T heterozygous mutation, allowing his case to be classified as the World Health Organization (WHO) entity: myeloid neoplasm with germline GATA2 mutation.