{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:24:33Z","timestamp":1790871873199,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,2,10]],"date-time":"2018-02-10T00:00:00Z","timestamp":1518220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Alex's Lemonade Stand Foundation Young Investigator award"},{"name":"KinderKrebsInitiative Buchholz\/Holm-Seppensen"},{"name":"Vanier Canada Graduate Scholarship"},{"name":"McGill Integrated Cancer Research Training Program (MICRTP) MSc Studentship"},{"name":"Canadian Institute of Health Research Foundation","award":["FDN-148390"],"award-info":[{"award-number":["FDN-148390"]}]},{"name":"DKG World Fellowship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germ\u2010line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. <jats:italic>DICER1<\/jats:italic> is a recently described cancer\u2010predisposition gene located at 14q32.13. We report the case of a male child with a \u223c5.8\u00a0Mbp 14q32.13q32.2 germ\u2010line deletion, which included the full <jats:italic>DICER1<\/jats:italic> locus. We reviewed available clinical and pathological material, and conducted genetic analyses. In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome\u2010related tumors before age 5\u00a0y: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I\/Ir cysts seen in <jats:italic>DICER1<\/jats:italic> mutation carriers). He also developed a cerebral spindle\u2010cell sarcoma with myogenous differentiation. Our investigations revealed that the deletion encompassed 31 protein\u2010coding genes. In addition to the germ\u2010line <jats:italic>DICER1<\/jats:italic> deletion, somatic <jats:italic>DICER1<\/jats:italic> RNase IIIb mutations were found in the CBME (c.5437G\u00a0&gt;\u00a0A, p.E1813K), pCN (c.5425G\u00a0&gt;\u00a0A, p.G1809R), and sarcoma (c.5125G\u00a0&gt;\u00a0A, p.D1709N). The sarcoma also harbored a somatic <jats:italic>TP53<\/jats:italic> mutation: c.844C\u00a0&gt;\u00a0T, p.R282W. Additional copy number alterations were identified in the CBME and sarcoma using an OncoScan array. Among the 8 cases with molecularly\u2010defined 14q32 deletions involving <jats:italic>DICER1<\/jats:italic> and for whom phenotypic information is available, our patient and one other developed DICER1\u2010related tumors. Biallelic <jats:italic>DICER1<\/jats:italic> mutations have not previously been reported to cause cerebral sarcoma, which now may be considered a rare manifestation of the DICER1 syndrome. Our study shows that DICER1\u2010related tumors can occur in children with 14q32 deletions and suggests surveillance for such tumors may be warranted.<\/jats:p>","DOI":"10.1002\/gcc.22523","type":"journal-article","created":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T12:22:56Z","timestamp":1515586976000},"page":"223-230","source":"Crossref","is-referenced-by-count":44,"title":["Multiple DICER1\u2010related tumors in a child with a large interstitial 14q32 deletion"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7314-1371","authenticated-orcid":false,"given":"Leanne","family":"de Kock","sequence":"first","affiliation":[{"name":"Department of Human Genetics McGill University Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6368-7474","authenticated-orcid":false,"given":"Dominique","family":"Geoffrion","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Rivera","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabea","family":"Wagener","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Ulm and University of Ulm Medical Center Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Sabbaghian","sequence":"additional","affiliation":[{"name":"Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Bens","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Ulm and University of Ulm Medical Center Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Ellezam","sequence":"additional","affiliation":[{"name":"Department of Pathology CHU Sainte Justine  Quebec Canada"},{"name":"Department of Pathology and Cellular Biology, Faculty of Medicine Universit\u00e9 de Montr\u00e9al Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Bouron\u2010Dal Soglio","sequence":"additional","affiliation":[{"name":"Department of Pathology CHU Sainte Justine  Quebec Canada"},{"name":"Department of Pathology and Cellular Biology, Faculty of Medicine Universit\u00e9 de Montr\u00e9al Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Ord\u00f3\u00f1ez","sequence":"additional","affiliation":[{"name":"The Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miami Florida USA"},{"name":"Division of Clinical Genetics Center for Genomic Medicine, Miami Cancer Institute Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Sacharow","sequence":"additional","affiliation":[{"name":"The Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miami Florida USA"},{"name":"Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Fernando","family":"Polo Nieto","sequence":"additional","affiliation":[{"name":"Department of Pathology Hospital Infantil de San Jos\u00e9 Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Paul","family":"Guillerman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Texas Children's Hospital Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordan M.","family":"Vujanic","sequence":"additional","affiliation":[{"name":"Department of Pathology Sidra Medicine Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R.","family":"Priest","sequence":"additional","affiliation":[{"name":"Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiner","family":"Siebert","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Ulm and University of Ulm Medical Center Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7427-4651","authenticated-orcid":false,"given":"William D.","family":"Foulkes","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Department of Medical Genetics Research Institute of the McGill University Health Centre Montreal Quebec Canada"},{"name":"Program in Cancer Genetics, Departments of Oncology and Human Genetics McGill University Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,2,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1128-4"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3283438200"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328348d8d0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000105"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26720"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/02699206.2012.728669"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32831"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3802"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2006.050083"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2402884"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2013.242"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000816"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31804d43a4"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.29032"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.6746.1"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70393-1"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1318-7"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-17-0629"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.22523","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T03:22:11Z","timestamp":1695698531000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,10]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1002\/gcc.22523"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22523","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,10]]}}}