<i>DNMT3A</i>overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults
Margaret A. Ferris, Amanda M. Smith, Sharon E. Heath, Eric J. Duncavage, Matthew J. Oberley, David R. Freyer, Robert Wynn, Sofia Douzgou, John M. Maris, Anne F. Reilly, Melinda Wu, Florence Choo, Roel B. Fiets, Saskia Koene, David H. Spencer, Christopher A. Miller, Marwan Shinawi, Timothy J. Ley
Abstract
DNMT3A overgrowth syndrome (DOS, also known as Tatton-Brown-Rahman Syndrome [TBRS]) is an overgrowth syndrome caused by de novo germline mutations in the gene encoding the de novo DNA-methyltransferase 3A (DNMT3A). 2] Although somatic mutations in DNMT3A are among the most common initiating events for patients with normal karyotype acute myeloid leukemia (AML) and clonal hematopoiesis, 5-9 mutations of DNMT3A are rarely found in pediatric patients with AML.