> Merkliste Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
Medientyp: E-Artikel Titel: EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis Beteiligte: Usemann, Jakob; Ernst, Thomas; Schäfer, Vivien; Lehmberg, Kai; Seeger, Karl Erschienen: Wiley, 2016 Erschienen in: American Journal of Medical Genetics Part A Sprache: Englisch DOI: 10.1002/ajmg.a.37562 ISSN: 1552-4825; 1552-4833 Schlagwörter: Genetics (clinical) ; Genetics Entstehung: Anmerkungen: Beschreibung: <jats:sec><jats:label /><jats:p>Weaver syndrome is an overgrowth syndrome characterized by pre‐ and postnatal overgrowth with distinctive craniofacial appearance. Mutations in the <jats:italic>enhancer of zeste homolog 2</jats:italic> (<jats:italic>EZH2</jats:italic>) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML). We present the first report of a patient with Weaver syndrome, who developed AML and harbored an <jats:italic>EZH2</jats:italic> mutation. The clinical course of the 16‐year‐old female adolescent patient was complicated by a secondary hemophagocytic lymphohistiocytosis. Genomic DNA was isolated from bone marrow cells at AML diagnosis. Polymerase chain reactions were performed with primers covering all exons of the <jats:italic>EZH2</jats:italic> gene. We found a novel heterozygous <jats:italic>EZH2</jats:italic> mutation within exon 5 that caused an amino acid change from proline to leucine at position 132 (p.Pro132Leu) within the catalytic D1 domain. Analysis of a remission sample also showed this mutation, indicating a germline mutation. It remains to be elucidated whether <jats:italic>EZH2</jats:italic> mutations contribute to disease severity in specific AML cases. © 2016 Wiley Periodicals, Inc.</jats:p></jats:sec>