{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T18:21:51Z","timestamp":1790446911059,"version":"4.1.0"},"reference-count":28,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2018,12,30]]},"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies associated with <jats:italic>DICER1<\/jats:italic> 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 <jats:italic>DICER1<\/jats:italic> variation, c.2437-2A&gt;G (likely pathogenic), which has not been previously described in the literature.<\/jats:p>","DOI":"10.1136\/bcr-2018-227391","type":"journal-article","created":{"date-parts":[[2019,1,21]],"date-time":"2019-01-21T05:35:46Z","timestamp":1548048946000},"page":"e227391","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Novel intronic <i>DICER1<\/i> variation associated with pleuropulmonary blastoma in two siblings"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8051-0657","authenticated-orcid":false,"suffix":"Jr","given":"Bruce D","family":"Leckey","sequence":"first","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M","family":"Carney","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica M","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth N","family":"Pavlisko","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,1,20]]},"reference":[{"key":"2025082804143261000_12.1.e227391.1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.12.1051"},{"key":"2025082804143261000_12.1.e227391.2","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21219"},{"key":"2025082804143261000_12.1.e227391.3","doi-asserted-by":"publisher","DOI":"10.1043\/1543-2165(2008)132[1079:PAMLTI]2.0.CO;2"},{"key":"2025082804143261000_12.1.e227391.4","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.29032"},{"key":"2025082804143261000_12.1.e227391.5","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20917"},{"key":"2025082804143261000_12.1.e227391.6","doi-asserted-by":"crossref","first-page":"504","DOI":"10.2350\/15-10-1732-OA.1","article-title":"Pleuropulmonary blastoma: evolution of an entity as an entry into a familial tumor predisposition syndrome","volume":"18","author":"Dehner","year":"2015","journal-title":"Pediatr Dev Pathol"},{"key":"2025082804143261000_12.1.e227391.7","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/j.athoracsur.2012.05.110","article-title":"Management of giant congenital pulmonary airway malformations requiring pneumonectomy","volume":"94","author":"Ben-Ishay","year":"2012","journal-title":"Ann Thorac Surg"},{"key":"2025082804143261000_12.1.e227391.8","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1159\/000440894","article-title":"Prenatal and postnatal management of congenital pulmonary airway malformation","volume":"110","author":"David","year":"2016","journal-title":"Neonatology"},{"key":"2025082804143261000_12.1.e227391.9","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200308000-00012"},{"key":"2025082804143261000_12.1.e227391.10","unstructured":"Stocker JT , Dehner LP , Husain AN . Stocker and dehner\u2019s pediatric pathology. 2015."},{"key":"2025082804143261000_12.1.e227391.11","unstructured":"Stocker JT , Mani H , Husain AN . The Respiratory Tract. In: Stocker JT , Dehner LP , Husain AN , eds. Pediatric pathology. 3rd edn. Philadelphia, PA: Lippincott Williams & Wilkins, 2011:441\u2013515."},{"key":"2025082804143261000_12.1.e227391.12","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/pbc.20965","article-title":"Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst","volume":"48","author":"Pai","year":"2007","journal-title":"Pediatr Blood Cancer"},{"key":"2025082804143261000_12.1.e227391.13","unstructured":"Fletcher CDM . Diagnostic histopathology of tumors. 1 1. 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