title: DICER1 syndrome can mimic different genetic tumor predispositions.
abstract: DICER1, a RNAse endonuclease involved in the processing of siRNA and microRNA, is known to play a pivotal role in the post-transcriptional regulation of gene expression. Germ line mutations in the DICER1 gene increase the risk for different types of tumors. At present, DICER1 syndrome is an established, though not well defined, member of the group of genetic tumor predisposition syndromes. Here, we report a DICER1 syndrome family with a medical history of different rare tumors mostly occurring at a young age. The tumor spectrum in this family included both DICER1 syndrome-typical forms, such as pleuropulmonary blastoma, multinodular goiter, and cystic nephroma, and not previously reported manifestations, such as pilomatrixoma, and juvenile basal cell carcinoma. The latter tumor types are usually considered to be indicators of familial adenomatous polyposis and basal cell nevus syndrome.
authors.affiliation: Institute of Human Genetics, University Hospital, University of Munich, Munich, Germany.
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Mehraein
authors.affiliation: Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
authors.forename: Irene
authors.initials: I
authors.lastname: Schmid
authors.affiliation: Institute of Human Genetics, University Hospital, University of Munich, Munich, Germany.
authors.forename: Marlene
authors.initials: M
authors.lastname: Eggert
authors.affiliation: Center for Human Genetics Freiburg, Freiburg, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.affiliation: Institute of Human Genetics, University Hospital, University of Munich, Munich, Germany. Electronic address: Ortrud.Steinlein@med.uni-muenchen.de.
authors.forename: Ortrud K
authors.initials: OK
authors.lastname: Steinlein
mesh_terms: D000293:Adolescent; D000328:Adult; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D043244:Ribonuclease III / Q000235:genetics*; D013577:Syndrome
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: Basal cell carcinoma; Basal cell nevus syndrome; DICER1 syndrome; Familial adenomatous polyposis; Pilomatrixoma; Pleuropulmonary blastoma