穆尔-托雷综合征患者眼周皮脂腺癌中脆性组氨酸三联体（FHIT）表达缺失与微卫星不稳定性

Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome.

作者信息

Holbach Leonard M, von Moller Alexander, Decker Carsten, Jünemann Anselm G M, Rummelt-Hofmann Carmen, Ballhausen Wolfgang G

机构信息

Department of Ophthalmology and Eye Hospital, University Erlangen-Nürnberg, Germany.

出版信息

Am J Ophthalmol. 2002 Jul;134(1):147-8. doi: 10.1016/s0002-9394(02)01434-4.

DOI:10.1016/s0002-9394(02)01434-4

PMID:12095833

Abstract

PURPOSE

To report fragile histidine triad expression and microsatellite instability in periocular sebaceous gland carcinoma.

DESIGN

Interventional case series.

METHODS

Biopsy specimens of periocular sebaceous gland carcinoma obtained from six patients (mean age, 60 +/- 17 years; range, 38 to 83 years, 5 male, 1 female) with Muir-Torre syndrome and histopathologically proven sebaceous gland carcinoma were studied immunohistochemically for the presence of fragile histidine triad protein. Polymerase chain reaction-based analysis of the markers BAT25, BAT26, D2S123, D5S346, and D17S250 was performed for microsatellite instability in tumorous and matching normal tissues.

RESULTS

Fragile histidine triad protein was detectable in the sebaceous gland carcinoma from one patient with microsatellite instability. It was not detectable in sebaceous gland carcinoma specimens from five patients without any evidence of microsatellite instability.

CONCLUSION

Inactivation of fragile histidine triad tumor suppressor gene or inactivation of the mismatch-repair system resulting in microsatellite instability may contribute to the development of periocular sebaceous gland carcinoma in Muir-Torre syndrome.

摘要

目的

报告眼周皮脂腺癌中脆性组氨酸三联体的表达及微卫星不稳定性。

设计

干预性病例系列。

方法

对6例（平均年龄60±17岁；范围38至83岁，5例男性，1例女性）患有穆尔-托雷综合征且经组织病理学证实为皮脂腺癌的患者所取的眼周皮脂腺癌活检标本进行免疫组织化学研究，以检测脆性组氨酸三联体蛋白的存在情况。对肿瘤组织及配对的正常组织进行基于聚合酶链反应的BAT25、BAT26、D2S123、D5S346和D17S250标记物分析，以检测微卫星不稳定性。