Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Leckey, BD; Carney, JM; Sun, JM; Pavlisko, EN

Published Date

  • January 20, 2019

Published In

Volume / Issue

  • 12 / 1

PubMed ID

  • 30665929

Pubmed Central ID

  • PMC6340604

Electronic International Standard Serial Number (EISSN)

  • 1757-790X

Digital Object Identifier (DOI)

  • 10.1136/bcr-2018-227391


  • eng

Conference Location

  • England