{"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":1790446911035,"version":"4.1.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T00:00:00Z","timestamp":1678924800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T00:00:00Z","timestamp":1678924800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"NIH","award":["1DP5OD033357-01"],"award-info":[{"award-number":["1DP5OD033357-01"]}]},{"name":"Seattle Children\u2019s Foundation: Elizabeth and George Smith Endowment in Molecular Diagnostics","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["matern health, neonatol and perinatol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pleuropulmonary blastoma (PPB) is a rare mesenchymal malignancy of the lung and is the most common pulmonary malignancy in infants and children. Cystic PPB, the earliest form of PPB occurring from birth to approximately two years of age, is often mistaken for a congenital pulmonary airway malformation, as the two entities can be difficult to distinguish on imaging and pathology. Diagnosis of PPB should prompt workup for\n                      <jats:italic>DICER1<\/jats:italic>\n                      syndrome, an autosomal dominant tumor predisposition syndrome. We report a newborn with a congenital PPB presenting with tachypnea and hypoxia, who was found to have variant of uncertain clinical significance (VUS) in\n                      <jats:italic>DICER1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A term female infant developed respiratory distress shortly after birth. Initial imaging was concerning for a congenital pulmonary airway malformation versus congenital diaphragmatic hernia, and she was transferred to a quaternary neonatal intensive care unit for management and workup. Chest CT angiography demonstrated a macrocytic multicystic lesion within the right lower lobe without systemic arterial supply. The pediatric surgery team was consulted, and the neonate underwent right lower lobectomy. Pathology revealed a type I PPB. Oncology and genetics consultants recommended observation without chemotherapy and single gene sequencing of\n                      <jats:italic>DICER1<\/jats:italic>\n                      , which identified a germline VUS in\n                      <jats:italic>DICER1<\/jats:italic>\n                      predicted to alter splicing. RNA-sequencing from blood demonstrated that the variant resulted in an in-frame deletion of 29 amino acids in a majority of transcripts from the affected allele. Due to the patient\u2019s young age at presentation and high clinical suspicion for\n                      <jats:italic>DICER1<\/jats:italic>\n                      syndrome, tumor surveillance was initiated. Renal and pelvic ultrasonography were unremarkable.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We present the case of a term neonate with respiratory distress and cystic lung mass, found to have a type I PPB with a germline VUS in\n                      <jats:italic>DICER1<\/jats:italic>\n                      that likely increased her risk of\n                      <jats:italic>DICER1<\/jats:italic>\n                      -related tumors. Nearly 70% of patients with PPB demonstrate germline mutations in\n                      <jats:italic>DICER1<\/jats:italic>\n                      . Review of RNA sequencing data demonstrates the difficulty in classifying splice variants such as this. Penetrance is low, and many patients with pathogenic\n                      <jats:italic>DICER1<\/jats:italic>\n                      variants do not develop a malignancy. Best practice surgical and oncologic recommendations include an individualized approach and tumor board discussion. This case highlights the importance of a multidisciplinary team approach and the utility of international registries for patients with rare diagnoses.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s40748-023-00148-2","type":"journal-article","created":{"date-parts":[[2023,3,26]],"date-time":"2023-03-26T16:37:54Z","timestamp":1679848674000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing"],"prefix":"10.1186","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5169-5792","authenticated-orcid":false,"given":"Allison N. J.","family":"Lyle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J. D.","family":"Ohlsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danny E.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Waligorski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Stark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mallory R.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihai","family":"Puia-Dumitrescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,16]]},"reference":[{"issue":"4","key":"148_CR1","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1002\/pbc.22583","volume":"56","author":"JR Priest","year":"2011","unstructured":"Priest JR, Andic D, Arbuckle S, Gonzalez-Gomez I, Williams G. Great vessel\/cardiac extension and tumor embolism in pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. Pediatr Blood Cancer. 2011;56(4):604\u20139. https:\/\/doi.org\/10.1002\/pbc.22583.","journal-title":"Pediatr Blood Cancer"},{"issue":"6","key":"148_CR2","doi-asserted-by":"publisher","first-page":"86","DOI":"10.3390\/children6080086","volume":"25","author":"S Knight","year":"2019","unstructured":"Knight S, Knight T, Khan A, Murphy AJ. Current management of pleuropulmonary blastoma: a surgical perspective. Child (Basel). 2019;25(6):86. https:\/\/doi.org\/10.3390\/children6080086.","journal-title":"Child (Basel)"},{"issue":"7","key":"148_CR3","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.5858\/2008-132-1079-PAMLTI","volume":"1","author":"MK Dishop","year":"2008","unstructured":"Dishop MK, Kuruvilla S. 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