Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
Am J Med Genet A
; 170A(5): 1333-8, 2016 May.
Article
em En
| MEDLINE
| ID: mdl-26898171
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Proteínas Nucleares
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Doenças Vestibulares
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Dermatofibrossarcoma
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Proteínas de Ligação a DNA
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Face
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Histona Desmetilases
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Doenças Hematológicas
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Proteínas de Neoplasias
Tipo de estudo:
Etiology_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article