Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings. Issue 1 (20th January 2019)

• Record Type: Journal Article
• Authors: Leckey, Bruce D; Carney, John M; Sun, Jessica M; Pavlisko, Elizabeth N
• Is Part Of: BMJ case reports. Volume 12:Issue 1(2019)
• Publication Date: 2019-01-20
• Subjects: genetics -- lung cancer (oncology) -- paediatric oncology -- pathology; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2018-227391
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies associated with DICER1 variants. We present two cases, a 2-year-old girl with upper respiratory tract symptoms as well as a 6-month-old girl sibling undergoing screening due to family history of malignancy. Imaging of the 2-year-old girl revealed a large mass filling the right hemithorax which was determined to be a type II PPB after pathological examination. Imaging of the 6-month-old sibling demonstrated a small cystic lesion in the posterior basal segment of the right lower lobe which was determined to be a type 1r PPB after pathological examination. The 2-year-old girl received adjuvant chemotherapy while the baby sister underwent resection alone and both are alive and well at 12 months and 7 months, respectively. Sequence analysis in both cases confirmed the same DICER1 variation, c.2437-2A>G (likely pathogenic), which has not been previously described in the literature.