{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T16:30:18Z","timestamp":1750177818430,"version":"3.40.5"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0149_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To present a case of a new pathogenic variant of DICER1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0149_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>13-year-old female with non-toxic multinodular goiter and ovarian Sertoli\u2013Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the <jats:italic>DICER1<\/jats:italic> gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0149_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Mutations in the <jats:italic>DICER1<\/jats:italic> gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0149","type":"journal-article","created":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T17:20:30Z","timestamp":1686590430000},"page":"782-785","source":"Crossref","is-referenced-by-count":1,"title":["Novel pathogenic variant of <i>DICER1<\/i> in an adolescent with multinodular goiter, ovarian Sertoli\u2013Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation"],"prefix":"10.1515","volume":"36","author":[{"given":"Aleida","family":"Rivera-Hern\u00e1ndez","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Madrigal-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz","family":"Mej\u00eda-Carmona","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"},{"name":"Pediatric Department , Hospital General de Zona No. 32 , Quer\u00e9taro , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isis","family":"Mart\u00ednez-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"},{"name":"Pediatric Department , Hospital General Regional No. 2 , Quer\u00e9taro , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Guadalupe","family":"P\u00e9rez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"},{"name":"Pediatric Department , Hospital General de Subzona y Medicina Familiar No. 4 , Tecom\u00e1n Colima , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaqu\u00edn","family":"Bernal-Manjarrez","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"},{"name":"Pediatric Department , Hospital de Ginecopediatria , Hermosillo , Sonora , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Luna-Vidal","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"},{"name":"Pediatric Department , Hospital General de Zona No. 197 , Texcoco Estado de M\u00e9xico , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah\u00ed","family":"Reta-Guerrero","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"},{"name":"Pediatric Endocrinology Department , Hospital Municipal del Ni\u00f1o. Hospital Materno-Infantil SSA , Durango , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco Antonio","family":"Rodr\u00edguez-Florido","sequence":"additional","affiliation":[{"name":"Pathology Department, Hospital de Pediatr\u00eda , UMAE CMN Siglo XXI , Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0373-6641","authenticated-orcid":false,"given":"Lourdes","family":"Balc\u00e1zar-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Master of Science, Endocrinology Department, Hospital de Especialidades , UMAE CMN Siglo XXI , IMSS, Avenida Cuauht\u00e9moc N. 330 Colonia Doctores. C.P. 06720 , Mexico City , Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,6,13]]},"reference":[{"key":"2023080909320490724_j_jpem-2023-0149_ref_001","doi-asserted-by":"crossref","unstructured":"de Kock, L, Wu, MK, Foulkes, WD. Ten years of DICER1 mutations: provenance, distribution, and associated phenotypes. Hum Mutat 2019;40:1939\u201353. https:\/\/doi.org\/10.1002\/humu.23877.","DOI":"10.1002\/humu.23877"},{"key":"2023080909320490724_j_jpem-2023-0149_ref_002","doi-asserted-by":"crossref","unstructured":"Schultze-Florey, RE, Graf, N, Vorwerk, P, Koscielniak, E, Schneider, DT, Kratz, CP. DICER1 syndrome: a new cancer syndrome. Klin P\u00e4diatr 2013;225:177\u20138. https:\/\/doi.org\/10.1055\/s-0033-1337976.","DOI":"10.1055\/s-0033-1337976"},{"key":"2023080909320490724_j_jpem-2023-0149_ref_003","doi-asserted-by":"crossref","unstructured":"Gonz\u00e1lez, IA, Stewart, DR, Schultz, KAP, Field, AP, Hill, DA, Dehner, LP. DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol 2022;35:4\u201322. https:\/\/doi.org\/10.1038\/s41379-021-00905-8.","DOI":"10.1038\/s41379-021-00905-8"},{"key":"2023080909320490724_j_jpem-2023-0149_ref_004","unstructured":"National Library of Medicine. National center for biotechnology information. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=dicer1%5Bgene%5D [Accessed 29 Mar 2023]."},{"key":"2023080909320490724_j_jpem-2023-0149_ref_005","doi-asserted-by":"crossref","unstructured":"de Kock, L, Priest, JR, Foulkes, WD, Alexandrescu, S. An update on the central nervous system manifestations of DICER1 syndrome. Acta Neuropathol 2020;139:689\u2013701. https:\/\/doi.org\/10.1007\/s00401-019-01997-y.","DOI":"10.1007\/s00401-019-01997-y"},{"key":"2023080909320490724_j_jpem-2023-0149_ref_006","doi-asserted-by":"crossref","unstructured":"Toll, S, Gupte, A, Sood, S, Kupsky, W, Altinok, D, Miller, S, et al.. Rare-53. Pineal parenchymal tumor of intermediate differentiation (PPTID) and DICER1 syndrome: a case report. Neuro Oncol 2020;22:iii453\u20134. https:\/\/doi.org\/10.1093\/neuonc\/noaa222.763.","DOI":"10.1093\/neuonc\/noaa222.763"},{"key":"2023080909320490724_j_jpem-2023-0149_ref_007","doi-asserted-by":"crossref","unstructured":"Gupte, A, Sood, S, Kupsky, WJ, Altinok, D, Miller, S, Roy, S, et al.. Pineal parenchymal tumor of intermediate differentiation and DICER1 syndrome: a case report. J Pediatr Hematol Oncol 2023;45:e406\u20139. https:\/\/doi.org\/10.1097\/MPH.0000000000002518.","DOI":"10.1097\/MPH.0000000000002518"},{"key":"2023080909320490724_j_jpem-2023-0149_ref_008","doi-asserted-by":"crossref","unstructured":"Nos\u00e9, V. DICER1 gene alterations in thyroid diseases. Cancer Cytopathol 2020;128:688\u20139. https:\/\/doi.org\/10.1002\/cncy.22327.","DOI":"10.1002\/cncy.22327"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0149\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0149\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T09:32:21Z","timestamp":1691573541000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0149\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,13]]},"references-count":8,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,6,22]]},"published-print":{"date-parts":[[2023,8,28]]}},"alternative-id":["10.1515\/jpem-2023-0149"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2023-0149","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2023,6,13]]}}}