North Texas Research Forum 2024



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North Texas


Medical City Weatherford


Internal Medicine

Document Type


Publication Date



myelodysplastic syndrome, MDS


Hemic and Lymphatic Diseases | Internal Medicine | Medicine and Health Sciences


Myelodysplastic syndrome (MDS) is a disorder of blood cell proliferation that has been shown to have multiple risk factors for pathogenesis. One risk factor well documented in existing literature is a mutation in GATA-binding factor 1 (GATA1) which is classically seen in younger individuals with Down syndrome. However, in our case report, we present an unusual presentation of MDS with a de novo GATA1 mutation in a 75-year-old male with no history of Down syndrome, who initially presented with isolaterombocytopenia. A 75-year-old male presented for evaluation of unexplained asymptomatic thrombocytopenia found incidentally on outpatient laboratory evaluation. Further evaluation of the thrombocytopenia revealed an increased (18.8%) proportion of clonal CD117+ cells via flowcytometry, and markedly hypercellular bone marrow with left shifted myeloid hyperplasia and dysmaturational megakaryocytic hyperplasia, consistent with a diagnosis of new onset myelodysplastic syndrome with increased blast count (MDS-IB2). A subsequent next generation sequencing incidentally found a de-novo mutation in GATA1. The patient was placed on azacitidine and was referred to a local bone marrow transplant clinic for further evaluation. The patient does not have a history of Down syndrome and his physical exam was inconsistent with findings typical of the syndrome. He also presented with isolated asymptomatic thrombocytopenia as his first sign of MDS. Although documented cases of GATA1 mutations in younger patients with Down syndrome and MDS have been noted, there exists a paucity of literature in older individuals with this type of presentation. This subset of MDS with GATA1 mutation is of unclear clinical significance in older individuals and may require further investigation, especially regarding prognostication and possible future treatment avenues.

Original Publisher

HCA Healthcare Graduate Medical Education

Myelodysplastic Syndrome with an Unusual De-novo GATA1 Mutation in an Elderly Caucasian Male: A Case Report



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