Prognostic value of TERT promoter mutations in conjunctival melanomas in addition to clinicopathological features
| Autor: | J A van Ipenburg, R Van Ginderdeuren, Nicole C. Naus, Guy Missotten, Robert M. Verdijk, Dion Paridaens, Hendrikus J. Dubbink |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Mutation Conjunctiva business.industry medicine.disease medicine.disease_cause Gastroenterology Sensory Systems Metastasis 03 medical and health sciences Cellular and Molecular Neuroscience Ophthalmology 0302 clinical medicine Palpebral fissure medicine.anatomical_structure SDG 3 - Good Health and Well-being 030220 oncology & carcinogenesis Internal medicine 030221 ophthalmology & optometry medicine Adjuvant therapy Telomerase reverse transcriptase business Epithelioid cell Cancer staging |
| Zdroj: | British Journal of Ophthalmology. 105(10):1454-1461 |
| ISSN: | 0007-1161 |
| Popis: | AimsTo evaluate the prognostic value of clinical, histopathological and molecular features and to relate different treatment modalities to clinical outcome in conjunctival melanomas (CM).MethodsRetrospective review of clinical, histopathological and BRAF V600E and telomerase reverse transcriptase (TERT) promoter mutation status and treatment modalities, correlated to recurrence and metastasis in 79 patients with CM, diagnosed between 1987 and 2015 in three tertiary referral centres in the Netherlands and Belgium.ResultsOut of 78 evaluable patients, recurrences occurred in 16 patients and metastasis in 12 patients (median follow-up time 35 months (0–260 months)). Tumour thickness >2 mm, pT status, the presence of epithelioid cells, ulceration and mitoses was significantly correlated with metastasis (p value 0.046, 0.01, 0.02, 0.001 and 0.003, respectively). Furthermore, CM frequently harbour BRAF V600E and TERT promoter mutations (29% and 43%, respectively). TERT promoter mutations were correlated to shorter metastasis-free survival (p value 0.002). No significant correlation was found for clinical parameters and metastatic disease. Palpebral, forniceal and caruncular melanomas were more prone to develop recurrences (p value: 0.03). Most CM were treated with excision with adjuvant therapy.ConclusionIn line with the recommendations in the Eighth Edition of the American Joint Committee on Cancer Staging for CM, the pathology report should include information about pT status, tumour thickness, presence of epithelioid cells, ulceration and mitoses. Furthermore, information about the presence of a TERT promoter mutation and BRAF V600E mutation is of interest for therapeutic decision making. The presence of a TERT promoter mutation is correlated to metastatic disease. |
| Databáze: | OpenAIRE |
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