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Am J Med Genet A. 2016 May;170A(5):1333-8. doi: 10.1002/ajmg.a.37584. Epub 2016 Feb 22.

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

Author information

1
Department of Neonatology and B' NICU (Neonatal Intensive Care Unit), Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
2
Second Department of Pediatric Surgery, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece.
3
Department of Medical Genetics, University of Athens School of Medicine, "Aghia Sophia" Children's Hospital, Goudi, Athens, Greece.

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.

KEYWORDS:

KMT2D; Kabuki syndrome; MLL2; children; giant cell fibroblastoma; juvenile fibroblastoma; malignancy; soft tissue neoplasm

PMID:
26898171
DOI:
10.1002/ajmg.a.37584
[Indexed for MEDLINE]

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