Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited

• Published in: American journal of medical genetics. Part A Vol. 170A; no. 5; pp. 1333 - 1338
• Main Authors: Karagianni, Paraskevi, Lambropoulos, Vassilios, Stergidou, Dorothea, Fryssira, Helena, Chatziioannidis, Ilias, Spyridakis, Ioannis
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.05.2016; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Abnormalities, Multiple - surgery; Child; children; Dermatofibrosarcoma - etiology; Dermatofibrosarcoma - genetics; Dermatofibrosarcoma - physiopathology; Dermatofibrosarcoma - surgery; DNA-Binding Proteins - genetics; Face - abnormalities; Face - physiopathology; Face - surgery; Female; Genotype; giant cell fibroblastoma; Hematologic Diseases - complications; Hematologic Diseases - genetics; Hematologic Diseases - physiopathology; Hematologic Diseases - surgery; Histone Demethylases - genetics; Humans; Intellectual Disability; juvenile fibroblastoma; Kabuki syndrome; KMT2D; malignancy; MLL2; Mutation; Neoplasm Proteins - genetics; Neoplasm Recurrence, Local - genetics; Neoplasm Recurrence, Local - physiopathology; Neoplasm Recurrence, Local - surgery; Nuclear Proteins - genetics; soft tissue neoplasm; Vestibular Diseases - complications; Vestibular Diseases - genetics; Vestibular Diseases - physiopathology; Vestibular Diseases - surgery; KMT2D; MLL2; giant cell fibroblastoma; soft tissue neoplasm; malignancy; children; Kabuki syndrome; juvenile fibroblastoma
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.37584

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. © 2016 Wiley Periodicals, Inc.