title: Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
abstract: Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12-year-old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma -a rare tumor of childhood- in a patient with Kabuki syndrome.
authors.affiliation: Department of Neonatology and B' NICU (Neonatal Intensive Care Unit), Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
authors.forename: Paraskevi
authors.initials: P
authors.lastname: Karagianni
authors.affiliation: Second Department of Pediatric Surgery, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
authors.forename: Vassilios
authors.initials: V
authors.lastname: Lambropoulos
authors.affiliation: Department of Neonatology and B' NICU (Neonatal Intensive Care Unit), Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
authors.forename: Dorothea
authors.initials: D
authors.lastname: Stergidou
authors.affiliation: Department of Medical Genetics, University of Athens School of Medicine, "Aghia Sophia" Children's Hospital, Goudi, Athens, Greece.
authors.forename: Helena
authors.initials: H
authors.lastname: Fryssira
authors.affiliation: Department of Neonatology and B' NICU (Neonatal Intensive Care Unit), Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
authors.forename: Ilias
authors.initials: I
authors.lastname: Chatziioannidis
authors.affiliation: Second Department of Pediatric Surgery, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Spyridakis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D018223:Dermatofibrosarcoma / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D005145:Face / Q000002:abnormalities* / Q000503:physiopathology / Q000601:surgery; D005260:Female; D005838:Genotype; D006402:Hematologic Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D056466:Histone Demethylases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D009687:Nuclear Proteins / Q000235:genetics*; D015837:Vestibular Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D056466:Histone Demethylases; C523998:KDM6A protein, human
keywords: KMT2D; Kabuki syndrome; MLL2; children; giant cell fibroblastoma; juvenile fibroblastoma; malignancy; soft tissue neoplasm