title: Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
abstract: Neurofibromatosis type 1 (NF1) is caused by mutations in the tumor suppressor gene NF1. The increased tumor risk in affected individuals is well established, caused by somatic biallelic inactivation of NF1 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 NF1 mutation (c.[1756_1759delACTA] and p.[Thr586Valfs*18]). We detected a "second hit" in the form of mosaic whole NF1 deletion in the tumor tissue using multiplex ligation-dependent probe amplification, as a proof to support the hypothesis of NF1 involvement in the pathogenesis of teratoma.
authors.affiliation: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
authors.forename: Patrick
authors.initials: P
authors.lastname: Yap
authors.affiliation: Monash Children's Cancer Centre, Monash Medical Centre, Clayton, Victoria, Australia.
authors.forename: Leanne
authors.initials: L
authors.lastname: Super
authors.affiliation: Department of Diagnostic Genomics, PathWest Laboratory Medicine, Western Australia, Australia.
authors.forename: Jinyi
authors.initials: J
authors.lastname: Qin
authors.affiliation: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.|Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.affiliation: Monash Biobank, Monash Health, Clayton, Victoria, Australia.
authors.forename: Zdenka
authors.initials: Z
authors.lastname: Prodanovic
authors.affiliation: Department of Diagnostic Genomics, PathWest Laboratory Medicine, Western Australia, Australia.
authors.forename: Caitlin
authors.initials: C
authors.lastname: Edwards
authors.affiliation: Monash Children's Cancer Centre, Monash Medical Centre, Clayton, Victoria, Australia.
authors.forename: Rosemary
authors.initials: R
authors.lastname: Thomas
authors.affiliation: Department of Diagnostic Genomics, PathWest Laboratory Medicine, Western Australia, Australia.
authors.forename: Karen
authors.initials: K
authors.lastname: Carpenter
authors.affiliation: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.|Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.
authors.forename: Tiong Yang
authors.initials: TY
authors.lastname: Tan
mesh_terms: D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics; D012186:Retroperitoneal Neoplasms / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D013724:Teratoma / Q000151:congenital* / Q000235:genetics* / Q000473:pathology
keywords: NF1; loss of heterozygosity; neurofibromatosis type 1; teratoma