title: DICER1 syndrome: a new cancer syndrome.
abstract: Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor and others. The DICER1 gene encodes an enzyme that is involved in the biogenesis of microRNAs. The entire tumor spectrum and the respective tumor risks are unknown. We are in the process of launching a natural history study aimed at identifying more information on this new cancer syndrome.
authors.affiliation: Klinik für Pädiatrische Hämatologie und Onkologie, Medizinische Hochschule, Hannover, Germany. Schultze-Florey.rebecca@mhhannover.de
authors.forename: R E
authors.initials: RE
authors.lastname: Schultze-Florey
authors.forename: N
authors.initials: N
authors.lastname: Graf
authors.forename: P
authors.initials: P
authors.lastname: Vorwerk
authors.forename: E
authors.initials: E
authors.lastname: Koscielniak
authors.forename: D T
authors.initials: DT
authors.lastname: Schneider
authors.forename: C P
authors.initials: CP
authors.lastname: Kratz
mesh_terms: D002648:Child; D002883:Chromosomes, Human, Pair 14; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D035683:MicroRNAs / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D018202:Pulmonary Blastoma / Q000235:genetics*; D012042:Registries; D043244:Ribonuclease III / Q000235:genetics*
chemical_list: D035683:MicroRNAs; C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases