title: DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor,  well-differentiated fetal adenocarcinoma of the lung, and familial  multinodular goiter.
abstract: DICER1 syndrome, a recently described tumor-predisposition syndrome, often involves multiple organs and is characterized by pleuropulmonary blastoma (PPB), cystic nephroma, ovarian Sertoli-Leydig tumors, familial multinodular goiter, etc. Germline DICER1 mutations have been identified in individuals with a variety of malignant conditions. However, in a review of the reported DICER1 syndrome cases that feature an unusual array of neoplastic and hyperplastic phenotypes, no mentions are made of these patients also presenting well-differentiated fetal adenocarcinoma of the lung. Here, we present a 16-year-old Chinese adolescent suffering from an ovarian Sertoli-Leydig cell tumor,well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter with a nonsense mutation (c.3540C > A; p.Tyr1180*) in exon 21 of DICER1. This report presents the first case in which the clinical features of DICER1 syndrome appear in combination with well-differentiated fetal adenocarcinoma of the lung. We hypothesize that this case may suggest that well-differentiated fetal adenocarcinoma of the lung falls within the wide spectrum of manifestations of the DICER1 syndrome. Remarkably, this mutation is reported in a patient from The International PPB Registry.
authors.forename: Yingchen
authors.initials: Y
authors.lastname: Wu
authors.forename: Dongmei
authors.initials: D
authors.lastname: Chen
authors.forename: Yangzhi
authors.initials: Y
authors.lastname: Li
authors.forename: Lijuan
authors.initials: L
authors.lastname: Bian
authors.forename: Tingting
authors.initials: T
authors.lastname: Ma
authors.forename: Meiqing
authors.initials: M
authors.lastname: Xie
mesh_terms: D000230:Adenocarcinoma / Q000000981:diagnostic imaging* / Q000235:genetics; D000293:Adolescent; D001483:Base Sequence; D018389:Codon, Nonsense; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006042:Goiter / Q000235:genetics / Q000601:surgery; D006801:Humans; D008175:Lung Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D016609:Neoplasms, Second Primary / Q000000981:diagnostic imaging* / Q000235:genetics; D010051:Ovarian Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D043244:Ribonuclease III / Q000235:genetics*; D018310:Sertoli-Leydig Cell Tumor / Q000000981:diagnostic imaging* / Q000235:genetics; D014463:Ultrasonography
chemical_list: D018389:Codon, Nonsense; C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases