Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung

J Thorac Oncol. 2016 Mar;11(3):e31-3. doi: 10.1016/j.jtho.2015.09.012. Epub 2015 Dec 10.


Germ-line DICER1 mutations predispose to a distinctive tumour predisposition syndrome, the DICER1 syndrome, which is associated with a spectrum of rare mainly childhood-onset tumours. In 2014, a case of well-differentiated fetal adenocarcinoma of the lung (WDFA) was reported in a 16-year-old germ-line DICER1 mutation carrier. Here we report our finding of a characteristic somatic DICER1 RNase IIIb c.5127T>A (p.Asp1709Glu) missense mutation within the WDFA, confirmed using laser capture microscopy. The child has a personal history consistent with the DICER1 syndrome: she developed a multinodular goitre at age 14 years and an ovarian Sertoli-Leydig cell tumour at age 16 years, each of which were found to harbour a somatic DICER1 RNase IIIb missense mutation. The identification of two DICER1 "hits" in the WDFA strongly suggests that WDFA is a rare, previously-unrecognised manifestation of DICER1 syndrome.

Keywords: DICER1; Laser capture microdissection; Mutation; Well-differentiated fetal adenocarcinoma; β-catenin.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / pathology
  • Adenocarcinoma of Lung
  • Adolescent
  • Cell Differentiation / genetics
  • DEAD-box RNA Helicases / genetics*
  • Female
  • Germ-Line Mutation*
  • Humans
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / pathology
  • Ribonuclease III / genetics*


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