کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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5904856 | 1569485 | 2014 | 5 صفحه PDF | دانلود رایگان |

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.3540CÂ >Â 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.
Journal: European Journal of Medical Genetics - Volume 57, Issues 11â12, NovemberâDecember 2014, Pages 621-625