ASH 2023 | Discovery of a new predisposition gene, ERG, for bone marrow failure and hematological malignancy

In this interview, Hamish Scott, PhD, and Chris Hahn, PhD, University of South Australia, Adelaide, Australia, discuss a case study of an Australian family that led to the discovery of a new predisposition gene for bone marrow failure and hematological malignancy. An investigation into the sons of a mother with thrombocytopenia and neutropenia, which progressed into acute myeloid leukemia (AML) and later therapy-related myelodysplastic syndrome (MDS), resulted in the identification of mutations in the ERG gene. A missense variation in the DNA-binding ETS domain causes a loss of function of the ETS protein and increases hematological disease predisposition. The discovery of this causal germline ERG mutation may improve diagnosis, surveillance, and treatment strategies of patients and holds the potential for developing targeted therapy strategies using gene and cell therapy. Germline testing for variants in ERG should be encouraged to identify individuals with ERG deficiency syndrome. This interview took place at the 65th ASH Annual Meeting and Exposition, held in San Diego, CA.

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