ena-STUDY-ST JUDE CHILDREN'S RESEARCH HOSPITAL-09-11-2018-19:44:28:271-43
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.
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.