Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?
Autor: | Flemming Skovby, Nille Behrendt, Ditte Marie Saunte, Thanusha Srikantharajah, Gregor B.E. Jemec |
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Rok vydání: | 2020 |
Předmět: |
Oncology
medicine.medical_specialty Skin Neoplasms Tumor suppressor gene business.industry Brooke-Spiegler syndrome Age Factors Autosomal dominant trait Dermatology Malignancy medicine.disease Malignant transformation Infectious Diseases Increased risk Cell Transformation Neoplastic Genetic marker Neoplastic Syndromes Hereditary Risk Factors Internal medicine Medicine Humans sense organs Risk factor business Biomarkers |
Zdroj: | Acta dermatovenerologica Alpina, Pannonica, et Adriatica. 29(3) |
ISSN: | 1581-2979 |
Popis: | Brooke-Spiegler syndrome (BSS) is a rare inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms. BSS has been linked to mutations in CYLD gene, which is a tumor suppressor gene located on chromosome 16q12-q13. An increased risk of malignant transformation of adnexal cutaneous tumors in BSS patients has been reported. However, no reported genetic markers identify patients at risk of cutaneous malignancy. This study reviews published cases of BSS to investigate the role of clinical parameters as biomarkers of skin malignancy. A comprehensive review of the clinical aspects of BSS is based on 55 case reports. Our analysis revealed only age as a predictor of malignancy; however, this is also a general risk factor for development of malignancy and therefore of limited value as a screening tool. The study highlights the need for standardized clinical follow-up of patients. |
Databáze: | OpenAIRE |
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