Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
Br J Ophthalmol. 2011 Dec;95(12):1686-90. doi: 10.1136/bjophthalmol-2011-300612. Epub 2011 Oct 6.
The aims of this study were to determine the significance of expression of DNA mismatch repair proteins in detecting systemic malignancies in a series of patients with periocular sebaceous cell carcinoma and to determine the clinical characteristics and frequency of Muir-Torre syndrome in this cohort.
The study was a retrospective non-comparative interventional case series.
31 patients with histologically proven sebaceous cell carcinoma of the eyelid participated in the study.
The authors made use of retrospective chart review and immunohistochemical staining of specimens.
The main outcome measures are as follows: location, tumour size, sites of origin, growth patterns, management, histopathological and immunohistochemical findings, metastasis, other visceral malignancies and mortality.
The median age of presentation of the 31 patients in this study was 71 years (range 35-92 years). There was a near-equal gender distribution (M:F-14:17). The average follow-up was 72 months. Seventeen patients had tumours arising from the upper lid, 13 from the lower lid and 1 from the caruncle. Nine patients had clinical Muir-Torre syndrome. Four patients were positive for microsatellite instability complexes and four were negative. Histologically, 14 patients had a high-grade tumour, 13 were intermediate grade and 4 were low grade. Based on the in situ pattern, six patients had a bowenoid pattern, five had both bowenoid and pagetoid patterns and two had a pagetoid pattern. Eighteen patients had no in situ disease detected. Twenty-one patients were alive without disease, and two were alive with disease. Six patients had died, five from other causes and one from the disease.
Visceral malignancies are common in patients with periocular sebaceous cell carcinoma. Approximately one in eight demonstrated a heritable risk for further visceral malignancy through failure to express DNA mismatch repair proteins. Diagnosis of periocular sebaceous cell carcinoma should prompt physicians to search for other associated malignancies. Immunohistochemical characterisation of these sebaceous lesions is useful in identifying increased risk in affected patients and family members.
本研究旨在确定 DNA 错配修复蛋白表达在一系列眼周皮脂细胞癌患者中检测全身恶性肿瘤的意义，并确定该队列中 Muir-Torre 综合征的临床特征和频率。
本研究为回顾性非对照干预性病例系列研究。
31 名经组织学证实的眼睑皮脂细胞癌患者参与了本研究。
作者利用回顾性图表回顾和标本免疫组织化学染色。
主要观察指标如下：位置、肿瘤大小、起源部位、生长模式、治疗、组织病理学和免疫组织化学发现、转移、其他内脏恶性肿瘤和死亡率。
本研究中 31 名患者的中位发病年龄为 71 岁（范围 35-92 岁）。性别分布近乎均等（男：女=14：17）。平均随访时间为 72 个月。17 例患者肿瘤发生在上眼睑，13 例发生在下眼睑，1 例发生在泪阜。9 例患者有临床 Muir-Torre 综合征。4 例患者微卫星不稳定复合物阳性，4 例阴性。组织学上，14 例为高级别肿瘤，13 例为中级别肿瘤，4 例为低级别肿瘤。根据原位模式，6 例为 Bowenoid 模式，5 例为 Bowenoid 和 Pagetoid 混合模式，2 例为 Pagetoid 模式。18 例患者未检测到原位疾病。21 例患者无病生存，2 例患者带病生存。6 例患者死亡，5 例死于其他原因，1 例死于该病。
眼周皮脂细胞癌患者内脏恶性肿瘤常见。约八分之一的患者由于 DNA 错配修复蛋白表达失败而表现出进一步内脏恶性肿瘤的遗传性风险。诊断眼周皮脂细胞癌应促使医生寻找其他相关恶性肿瘤。这些皮脂病变的免疫组织化学特征有助于识别受影响患者和患者家属的风险增加。
