Case Reports - Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung. Issue 3 (March 2016)

• Record Type: Journal Article
• Authors: de Kock, Leanne; Bah, Ismaël; Wu, Yingchen; Xie, Meiqing; Priest, John R.; Foulkes, William D.
• Is Part Of: Journal of thoracic oncology. Volume 11:Issue 3(2016)
• Publication Date: 2016-03
• Subjects: DICER1 -- Well‐differentiated fetal adenocarcinoma -- β‐catenin -- Laser capture microdissection -- Mutation; Chest -- Cancer -- Periodicals; Thoracic Neoplasms -- Periodicals; 616.99494005
• DOI: 10.1016/j.jtho.2015.09.012
• Languages: English
• ISSNs: 1556-0864

Abstract

ABSTRACT : N/A: 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.