Cutaneous hyperpigmentation and familial gastrointestinal stromal tumour associated with KIT mutation
| Autor: | G.N. Wali, Tess McPherson, E. Ieremia, D. Halliday, Rubeta N Matin, J. Dua |
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| Rok vydání: | 2018 |
| Předmět: |
Male
medicine.medical_specialty Gastrointestinal Stromal Tumors Vitiligo Dermatology Germline Metastasis 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Hyperpigmentation Urticaria Pigmentosa medicine Humans Mass Screening Family history Child neoplasms Germ-Line Mutation Lentigo Gastrointestinal tract GiST business.industry Skin Diseases Genetic medicine.disease digestive system diseases Proto-Oncogene Proteins c-kit 030220 oncology & carcinogenesis Mutation Urticaria pigmentosa medicine.symptom business |
| Zdroj: | Clinical and experimental dermatology. 44(4) |
| ISSN: | 1365-2230 |
| Popis: | Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours arising in the gastrointestinal tract. Early detection, before metastasis occurs, is important as complete surgical excision achieves cure. Approximately 85% of GISTs are associated with mutations in the KIT gene, and although the majority of GISTs are sporadic, familial GISTs have been identified. Several families with multiple GIST tumours have also been described with various cutaneous findings including hyperpigmentation, multiple lentigines, vitiligo and urticaria pigmentosa. We discuss a 6-year-old boy who presented with an unusual pattern of hyperpigmentation in association with a family history of GIST. A causative KIT mutation was identified in DNA from the pigmented skin and from the resected GIST, and the patient was referred to the Paediatric Gastroenterology department for GIST screening. The term 'GIST cutaneous hyperpigmentation disease' has been suggested previously for the association of familial GIST with cutaneous hyperpigmentation caused by a germline KIT mutation. |
| Databáze: | OpenAIRE |
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