{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T03:42:32Z","timestamp":1773114152795,"version":"3.50.1"},"reference-count":39,"publisher":"Cold Spring Harbor Laboratory","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>We report a case of a <jats:italic>DICER1<\/jats:italic>-associated <jats:italic>EWSR1<\/jats:italic>-rearranged malignant primitive neuroectodermal tumor (PNET) arising in a patient with DICER1 tumor predisposition syndrome. A 16-yr-old female with a history of multinodular goiter presented with a widely metastatic abdominal small round blue cell tumor with neuroectodermal differentiation. <jats:italic>EWSR1<\/jats:italic> gene rearrangement was identified in the tumor by fluorescence in situ hybridization (FISH). Genetic analysis revealed biallelic pathogenic <jats:italic>DICER1<\/jats:italic> variation. The patient was treated with an aggressive course of chemotherapy, surgery, and radiation with complete pathologic response. We believe this case to represent a new expression of the DICER1 tumor predisposition syndrome, an entity caused by deleterious germline mutations in the <jats:italic>DICER1<\/jats:italic> gene, encoding a ribonuclease active in the processing of miRNA. Patients with germline mutations in <jats:italic>DICER1<\/jats:italic> develop a diverse group of benign and malignant tumors. Some of these tumors have been noted to have immature neuroepithelium as a component, including the ciliary body medulloepithelioma and the recently described <jats:italic>DICER1<\/jats:italic>-associated presacral malignant teratoid neoplasm. To our knowledge, abdominal sarcomas that resemble PNET histology with an <jats:italic>EWSR1<\/jats:italic> rearrangement have not previously been described as a classical expression of the DICER1 syndrome phenotype.<\/jats:p>","DOI":"10.1101\/mcs.a005603","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T01:15:22Z","timestamp":1602119722000},"page":"a005603","source":"Crossref","is-referenced-by-count":7,"title":["<i>DICER1<\/i>-associated metastatic abdominopelvic primitive neuroectodermal tumor with an <i>EWSR1<\/i> rearrangement in a 16-yr-old female"],"prefix":"10.1101","volume":"6","author":[{"given":"Alessia","family":"Pancaldi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel S.","family":"Rhee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica A.","family":"Forcucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Belchis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine A.","family":"Pratilas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"2021112406083485000_6.5.a005603.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.081216"},{"key":"2021112406083485000_6.5.a005603.2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.206"},{"key":"2021112406083485000_6.5.a005603.3","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25088"},{"key":"2021112406083485000_6.5.a005603.4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23877"},{"key":"2021112406083485000_6.5.a005603.5","doi-asserted-by":"publisher","DOI":"10.4103\/0019-5413.69304"},{"key":"2021112406083485000_6.5.a005603.6","unstructured":"Doros L , Schultz KA , Stewart DR , Bauer AJ , Williams G , Rossi CT , Carr A , Yang J , Dehner LP , Messinger Y , 1993. 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