Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

TitleRecurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
Publication TypeJournal Article
Year of Publication2016
AuthorsKaragianni P, Lambropoulos V, Stergidou D, Fryssira H, Chatziioannidis I, Spyridakis I
JournalAm J Med Genet A
Volume170
Issue5
Pagination1333-8
Date Published2016 May
ISSN1552-4833
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. © 2016 Wiley Periodicals, Inc.

DOI10.1002/ajmg.a.37584
Alternate JournalAm. J. Med. Genet. A
Citation Key1665
PubMed ID26898171