Germline deletion of ETV6 in familial acute lymphoblastic leukemia

We report germline deletion of ETV6 in a kindred with 6 individuals with thrombocytopenia, B-progenitor acute lymphoblastic leukemia and diffuse large B cell lymphoma identified by linkage and structural variant analysis of whole genome sequencing data. The 75 nucleotide deletion removed the ETV6 exon 7 splice acceptor, resulting in exon skipping and protein truncation. These findings highlight the importance of germline structural variant analysis in the investigation of familial leukemia.