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Rebecca Olin, MD, MS


Hematopoietic Stem Cell Transplantation for AML: Role of Genetic Mutation

By: Cordi Craig
Posted: Saturday, June 20, 2020

One of the only curative therapies for patients with germline GATA2 mutations is hematopoietic stem cell transplantation; however, it may cause increased risk for transplant-related toxicity and death. Findings from a case-control study, published in Biology of Blood and Marrow Transplantation, suggested that transplant outcomes were similar between patients with GATA2 mutations versus those with wild type. However, Inga Hofmann, MD, of the University of Wisconsin, Madison, and colleagues reported that neurologic and thrombotic events appeared to occur more frequently in the GATA2 group than in other patients, warranting further investigation.

The researchers retrospectively compared hematopoietic stem cell transplantation outcomes between pediatric patients with and without germline GATA2 mutations. Patients with GATA2 mutations had bone marrow failure, myelodysplastic syndromes, and acute myeloid leukemia (AML). They were compared with two control groups without the mutation: Control group A had bone marrow failure or myelodysplastic syndromes and control group B had acute leukemia.

All of the groups achieved similar survival outcomes, regardless of mutation status. The 5-year overall survival rates were 65%, 58%, and 45% for the GATA2 cohort, control group A, and control group B, respectively. Similarly, the 5-year disease-free survival rates were 51%, 49%, and 43%, respectively.

However, the 5-year event-free survival rate was significantly lower in the GATA2 cohort than in the controls groups due to a high number of transplant-related adverse effects. In particular, neurologic toxicities occurred significantly more often among patients with the GATA2 mutation than in either control group. Thrombotic events occurred solely in the GATA2 cohort; there were no reported cases of thrombotic events in the control groups. However, the study authors reported no significant differences in the occurrence of transplant-related mortality, infections, or graft-versus-host disease based on the presence or absence of this genetic mutation.

Disclosure: The study authors reported no conflicts of interest.

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