{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T15:28:20Z","timestamp":1760369300559},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,10,30]],"date-time":"2015-10-30T00:00:00Z","timestamp":1446163200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:p>Neurofibromatosis type 1 (NF1) is caused by mutations in the tumor suppressor gene <jats:italic>NF1<\/jats:italic>. The increased tumor risk in affected individuals is well established, caused by somatic biallelic inactivation of <jats:italic>NF1<\/jats:italic> due to loss of heterozygosity. Pediatric teratoma has not been reported in individuals with NF1 previously. We report a case of congenital teratoma in an infant with a heterozygous maternally inherited pathogenic <jats:italic>NF1<\/jats:italic> mutation (c.[1756_1759delACTA] and p.[Thr586Valfs*18]). We detected a \u201csecond hit\u201d in the form of mosaic whole <jats:italic>NF1<\/jats:italic> deletion in the tumor tissue using multiplex ligation\u2010dependent probe amplification, as a proof to support the hypothesis of <jats:italic>NF1<\/jats:italic> involvement in the pathogenesis of teratoma.<\/jats:p>","DOI":"10.1002\/pbc.25812","type":"journal-article","created":{"date-parts":[[2015,10,30]],"date-time":"2015-10-30T11:09:30Z","timestamp":1446203370000},"page":"706-708","source":"Crossref","is-referenced-by-count":6,"title":["Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1"],"prefix":"10.1002","volume":"63","author":[{"given":"Patrick","family":"Yap","sequence":"first","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leanne","family":"Super","sequence":"additional","affiliation":[{"name":"Monash Children's Cancer Centre Monash Medical Centre  Clayton Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinyi","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics PathWest Laboratory Medicine  Western Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trent","family":"Burgess","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Department of Paediatrics Royal Children's Hospital University of Melbourne  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zdenka","family":"Prodanovic","sequence":"additional","affiliation":[{"name":"Monash Biobank Monash Health  Clayton Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin","family":"Edwards","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics PathWest Laboratory Medicine  Western Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosemary","family":"Thomas","sequence":"additional","affiliation":[{"name":"Monash Children's Cancer Centre Monash Medical Centre  Clayton Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Carpenter","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics PathWest Laboratory Medicine  Western Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiong Yang","family":"Tan","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Department of Paediatrics Royal Children's Hospital University of Melbourne  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,30]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1","article-title":"Neurofibromatosis type\u20101: It association with the Ras\/MAPK pathway syndromes","volume":"7","author":"Bennett E","year":"2009","journal-title":"J Ped Neurol"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70033-6"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2264(200008)28:4<425::AID-GCC8>3.0.CO;2-E"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21387"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25423"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.4172\/2168-9857.1000124"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32832b41ee"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jso.20043"},{"key":"e_1_2_7_10_1","first-page":"575","article-title":"Conference statement. 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