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BRAF 和 NRAS 在结膜黑色素瘤中的预后价值:分析与文献回顾。

BRAF and NRAS prognostic values in conjunctival melanoma: analysis and literature review.

机构信息

Department of Ophthalmology, University Clinical Hospital of Valladolid, Spain.

Department of Anatomic Pathology, University Hospital of Araba, Vitoria-Gasteiz, Álava, Spain.

出版信息

Arq Bras Oftalmol. 2023 Oct 13;86(5):e20230071. doi: 10.5935/0004-2749.20230071. eCollection 2023.

Abstract

PURPOSE

Conjunctival melanoma is a rare and aggressive tumor with a propensity for regional and distant metastases. This study aimed to analyze BRAF/NRAS markers in conjunctival melanoma and their relationship with tumor recurrences and patient prognosis.

METHODS

This retrospective, observational, single-center study included consecutive patients with an anatomopathological diagnosis of conjunctival melanoma, registered between January 1992 and December 2019. BRAF/NRAS mutations were analyzed using cobas®4800 kit (Roche®) in samples obtained by excisional or map biopsy. Additionally, the presence of other associated precancerous or tumor lesions was assessed.

RESULTS

A total of 12 patients with positive histological samples for conjunctival melanoma were included (7 women, 5 men), with a mean age at diagnosis of 60 years and a mean evolution time of 6.38 ± 3.4 years. BRAF V600E mutation was observed in three biopsies (25%), similar to NRAS Q61X (25%). Recurrences occurred in all patients with positive BRAF or NRAS mutation, and five of these patients developed systemic dissemination (83.33%). Moreover, four of six patients with mutated BRAF or NRAS (66.66%) had histopathological findings of tumor or precancerous lesions.

CONCLUSIONS

BRAF and NRAS mutations may be risk factors for recurrence and shorter survival in conjunctival melanoma, which would make these patients candidates for targeted therapies and comprehensive and individualized follow-up. All these data warrant standardized prospective studies.

摘要

目的

结膜黑色素瘤是一种罕见且侵袭性的肿瘤,易发生局部和远处转移。本研究旨在分析结膜黑色素瘤中的 BRAF/NRAS 标志物及其与肿瘤复发和患者预后的关系。

方法

这是一项回顾性、观察性、单中心研究,纳入了 1992 年 1 月至 2019 年 12 月连续确诊为结膜黑色素瘤的患者。采用 cobas®4800 试剂盒(罗氏)对切除或地图活检获得的样本进行 BRAF/NRAS 突变分析。此外,还评估了其他相关癌前或肿瘤病变的存在情况。

结果

共纳入 12 例结膜黑色素瘤组织学阳性样本患者(7 名女性,5 名男性),诊断时的平均年龄为 60 岁,平均病程为 6.38±3.4 年。在 3 例活检标本中观察到 BRAF V600E 突变(25%),与 NRAS Q61X 相似(25%)。所有 BRAF 或 NRAS 突变阳性患者均发生复发,其中 5 例发生全身播散(83.33%)。此外,6 例 BRAF 或 NRAS 突变患者中有 4 例(66.66%)存在肿瘤或癌前病变的组织学发现。

结论

BRAF 和 NRAS 突变可能是结膜黑色素瘤复发和生存时间缩短的危险因素,这使得这些患者成为靶向治疗和全面个体化随访的候选者。所有这些数据都需要进行标准化的前瞻性研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/03e6/11826533/a05895ff2406/abo-86-05-e20230071-g01.jpg

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