Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited
| Autor: | Paraskevi Karagianni, Helena Fryssira, Dorothea Stergidou, Ilias Chatziioannidis, Vassilios Lambropoulos, Ioannis Spyridakis |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Soft Tissue Neoplasm Genotype Biology Malignancy 03 medical and health sciences 0302 clinical medicine Intellectual Disability Internal medicine Intellectual disability Genetics medicine Humans Abnormalities Multiple Epigenetics Child Genetics (clinical) Histone Demethylases Dermatofibrosarcoma Nuclear Proteins Giant-cell fibroblastoma medicine.disease Hematologic Diseases Dermatology Neoplasm Proteins DNA-Binding Proteins 030104 developmental biology Endocrinology Vestibular Diseases Face 030220 oncology & carcinogenesis Mutation Female Neoplasm Recurrence Local Kabuki syndrome |
| Zdroj: | American Journal of Medical Genetics Part A. 170:1333-1338 |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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