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

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer
Leanne de KockWilliam D Foulkes

Abstract

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.

References

May 23, 2002·The Annals of Thoracic Surgery·Afzal ZaidiEric G Butchart

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Citations

May 16, 2018·Cancers·Jake C RobertsonJulia Thom Oxford
Apr 30, 2016·The European Respiratory Journal·Leanne de KockWilliam D Foulkes
Feb 24, 2018·The Journal of Clinical Endocrinology and Metabolism·Jonathan D WassermanWilliam D Foulkes
Jul 28, 2016·The Journal of Clinical Endocrinology and Metabolism·Leanne de KockWilliam D Foulkes
Oct 18, 2019·Pediatric Radiology·R Paul GuillermanJohn R Priest
Jan 1, 2018·JCO Precision Oncology·Kenneth S ChenJames F Amatruda
Jul 24, 2018·Lung Cancer : Journal of the International Association for the Study of Lung Cancer·Iikki DonnerLauri A Aaltonen
Sep 1, 2021·Thoracic Cancer·Shuyang ZhangYan Wang

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