DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter

Eur J Med Genet. 2014 Nov-Dec;57(11-12):621-5. doi: 10.1016/j.ejmg.2014.09.008.


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.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / diagnostic imaging*
  • Adenocarcinoma / genetics
  • Adolescent
  • Base Sequence
  • Codon, Nonsense
  • DEAD-box RNA Helicases / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Goiter / genetics
  • Goiter / surgery
  • Humans
  • Lung Neoplasms / diagnostic imaging*
  • Lung Neoplasms / genetics
  • Neoplasms, Second Primary / diagnostic imaging*
  • Neoplasms, Second Primary / genetics
  • Ovarian Neoplasms / diagnostic imaging*
  • Ovarian Neoplasms / genetics
  • Radiography
  • Ribonuclease III / genetics*
  • Sertoli-Leydig Cell Tumor / diagnostic imaging*
  • Sertoli-Leydig Cell Tumor / genetics
  • Ultrasonography


  • Codon, Nonsense
  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases