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Prognostic value of TERT promoter mutations in conjunctival melanomas in addition to clinicopathological features
British Journal of Ophthalmology ( IF 4.1 ) Pub Date : 2021-10-01 , DOI: 10.1136/bjophthalmol-2020-317405
J A van Ipenburg 1 , N C Naus 2 , H J Dubbink 3 , R van Ginderdeuren 4 , G S Missotten 5 , D Paridaens 6 , R M Verdijk 7
Affiliation  

Aims To evaluate the prognostic value of clinical, histopathological and molecular features and to relate different treatment modalities to clinical outcome in conjunctival melanomas (CM). Methods Retrospective 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. Results Out 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. Conclusion In 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.

中文翻译:

除临床病理学特征外,结膜黑色素瘤中 TERT 启动子突变的预后价值

目的 评估临床、组织病理学和分子特征的预后价值,并将不同的治疗方式与结膜黑色素瘤 (CM) 的临床结果联系起来。方法 回顾性回顾 1987 年至 2015 年间在荷兰和比利时的三个三级转诊中心诊断的 79 名 CM 患者的临床、组织病理学和 BRAF V600E 和端粒酶逆转录酶 (TERT) 启动子突变状态和治疗方式,这些患者与复发和转移相关。 . 结果 在 78 名可评估患者中,16 名患者发生复发,12 名患者发生转移(中位随访时间 35 个月(0-260 个月))。肿瘤厚度>2 mm、pT 状态、上皮样细胞的存在、溃疡和有丝分裂与转移显着相关(p 值 0.046、0.01、0.02、0.001 和 0. 003,分别)。此外,CM 经常含有 BRAF V600E 和 TERT 启动子突变(分别为 29% 和 43%)。TERT 启动子突变与较短的无转移生存期相关(p 值 0.002)。没有发现临床参数和转移性疾病的显着相关性。眼睑、穹窿和肉泡黑色素瘤更容易复发(p 值:0.03)。大多数 CM 接受了辅助治疗的切除治疗。结论 根据第 8 版美国癌症分期联合委员会对 CM 的建议,病理报告应包括 pT 状态、肿瘤厚度、上皮样细胞存在、溃疡和有丝分裂等信息。此外,关于 TERT 启动子突变和 BRAF V600E 突变存在的信息对于治疗决策很有意义。TERT 启动子突变的存在与转移性疾病相关。
更新日期:2021-09-23
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