Department of Zoology, Sri Venkateswara College, University of Delhi, New Delhi, India.
Department of Ocular Pathology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Indian J Ophthalmol. 2022 Mar;70(3):971-975. doi: 10.4103/ijo.IJO_1342_21.
Mutations in human telomerase reverse transcriptase (TERT) are associated with increased telomerase activity in cutaneous melanomas. Conjunctival squamous cell carcinoma, also referred to as ocular surface squamous cell carcinoma, is cancer on the surface of the eye. Recent studies have identified UV signat`ure mutations in TERT promoters in ocular melanoma and ocular surface squamous neoplasia. However, its immunohistochemical status has not been reported in ocular surface squamous cell carcinoma. This study aimed to explore the immunohistochemical and mutational status of TERT in ocular surface SCC.
The immunohistochemical expression of TERT and mutational status of TERT promoter was evaluated in 19 ocular surface squamous cell carcinoma cases. Conjunctival melanoma tissue was used as a positive control.
The cytoplasmic overexpression of TERT was detected in 11/19 (57%), and TERT promoter mutations were identified in 6/19 (31%) of ocular surface squamous cell carcinoma. Out of these, 66% had a C228T mutation, and 33% had a C250T mutation. The TERT expression was found to be associated with a high (≥T3) AJCC category (P = 0.023), and TERT immunoexpression was significantly correlated with reduced disease-free survival (P = 0.024, log-rank analysis) in ocular surface squamous cell carcinoma patients.
The present study demonstrates that TERT promoter mutations with UV signatures are frequent in ocular surface squamous cell carcinoma. The increased expression of TERT could be of biological significance in aggressive ocular surface squamous cell carcinoma.
人类端粒酶逆转录酶（TERT）的突变与皮肤黑色素瘤中端粒酶活性的增加有关。结膜鳞状细胞癌，也称为眼表面鳞状细胞癌，是眼睛表面的癌症。最近的研究已经在眼黑色素瘤和眼表面鳞状肿瘤中发现了 TERT 启动子的 UV 特征突变。然而，其在眼表面鳞状细胞癌中的免疫组织化学状态尚未报道。本研究旨在探讨眼表面 SCC 中 TERT 的免疫组织化学和突变状态。
评估了 19 例眼表面鳞状细胞癌病例中 TERT 的免疫组织化学表达和 TERT 启动子的突变状态。结膜黑色素瘤组织用作阳性对照。
在 19 例眼表面鳞状细胞癌中，检测到 11/19（57%）的 TERT 细胞质过表达，并且在 6/19（31%）的眼表面鳞状细胞癌中鉴定出 TERT 启动子突变。其中，66%有 C228T 突变，33%有 C250T 突变。TERT 表达与 AJCC 较高（≥T3）类别相关（P=0.023），并且 TERT 免疫表达与眼表面鳞状细胞癌患者无病生存时间降低显著相关（P=0.024，对数秩分析）。
本研究表明，具有 UV 特征的 TERT 启动子突变在眼表面鳞状细胞癌中很常见。TERT 的表达增加可能在侵袭性眼表面鳞状细胞癌中具有生物学意义。
