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Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings
  1. Bruce D Leckey Jr1,
  2. John M Carney1,
  3. Jessica M Sun2 and
  4. Elizabeth N Pavlisko1
  1. 1 Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA
  2. 2 Department of Pediatric Hematology Oncology, Duke University Medical Center, Durham, North Carolina, USA
  1. Correspondence to Dr Bruce D Leckey Jr, Bruce.leckey{at}


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.

  • genetics
  • lung cancer (oncology)
  • paediatric oncology
  • pathology

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  • Patient consent for publication Parental/guardian consent obtained.

  • Contributors All authors participated in the care of the patients as well as the design, content and final editing of the case report. In addition, JS was the attending oncologist for the patients and provided clinical history and editing of the final draft. ENP was the attending pathologist who provided the primary diagnoses and design and editing of the final draft. BDL assisted in the primary diagnosis of the patients, acquisition of the photomicrographs and overall content of the final draft. JC assisted with the primary diagnoses and assisted with the differential diagnosis section as well as overall editing of the final draft.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

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