Department of Ophthalmology, Ross Eye Institute and State University of New York, 1176 Main Street, Buffalo, NY 14209, USA.
Diagn Pathol. 2011 Sep 5;6:81. doi: 10.1186/1746-1596-6-81.
Ocular sebaceous carcinoma can masquerade as benign lesions resulting in delay of diagnosis. Early recognition is even more difficult in young patients where the disease rarely occurs. Here, we provide a clinicopathological correlation of ocular sebaceous carcinoma in a young individual lacking history of hereditary cancer or immunosuppression.
A detailed histopathological study including p53 DNA sequencing was performed on an aggressive sebaceous carcinoma presenting in a healthy 32 year-old Caucasian woman. She had no history of retinoblastoma, evidence for a hereditary cancer syndrome, or radiation therapy. However, she potentially was at risk for excessive UV light exposure. A detailed review of the literature is also provided.A moderately well differentiated sebaceous carcinoma was established histopathologically arising from the meibomian gland of the upper eyelid. In most areas, the cytoplasm contained small but distinct Oil-red-O positive vacuoles. Direct sequencing of p53 identified a G:C→A:T mutation at a dipyrimidine site. The mutation results in substitution of arginine for the highly conserved glycine at residue 199 located at the p53 dimer-dimer interface. Energy minimization structural modeling predicts that G199R will neutralize negative charges contributed by nearby inter- and intramonomeric glutamate residues.
This study points to the importance of recognizing that sebaceous carcinoma can occur in young patients with no evidence for hereditary cancer risk or radiation therapy. The G199R substitution is anticipated to alter the stability of the p53 tetrameric complex. The role of UV light in the etiology of sebaceous carcinoma deserves further study. Our findings, taken together with those of others, suggest that different environmental factors could lead to the development of sebaceous carcinoma in different patients.
眼部皮脂腺癌可能会伪装成良性病变，导致诊断延误。在疾病很少发生的年轻患者中，早期识别更加困难。在此，我们提供了一例年轻个体眼部皮脂腺癌的临床病理相关性研究，该个体无遗传性癌症或免疫抑制病史。
对一位健康的 32 岁白人高加索女性中出现的侵袭性皮脂腺癌进行了详细的组织病理学研究，包括 p53 DNA 测序。她没有视网膜母细胞瘤病史，也没有遗传性癌症综合征的证据，也没有接受过放射治疗。然而，她可能有过度暴露于紫外线的风险。还提供了详细的文献综述。
组织病理学上确定为来自上眼睑的睑板腺的中度分化良好的皮脂腺癌。在大多数区域，细胞质中含有小而明显的油红-O 阳性空泡。p53 的直接测序确定了一个在二嘧啶位点的 G:C→A:T 突变。该突变导致高度保守的甘氨酸被精氨酸取代，位于 p53 二聚体-二聚体界面的 199 号残基。能量最小化结构建模预测 G199R 将中和附近的单体和同型单体谷氨酸残基贡献的负电荷。
本研究表明，认识到皮脂腺癌可能发生在没有遗传性癌症风险或放射治疗证据的年轻患者中非常重要。G199R 取代预计会改变 p53 四聚体复合物的稳定性。紫外线在皮脂腺癌发病机制中的作用值得进一步研究。我们的研究结果与其他人的研究结果一起表明，不同的环境因素可能导致不同的患者发生皮脂腺癌。
