Muir-Torre Syndrome with Squamous Cell Lung Cancer and Sebaceous Carcinoma

合併產生肺癌及皮脂腺癌之Muir-Torre syndrome-病例報告

倪永倫(Yung-Lun Ni) ； 容世明(Shih-Ming Jung) ； 余志騰(Chih-Teng Yu) ； 陳志弘(Chih-Hung Chen)

《胸腔醫學》 23卷3期 (2008/06) Pp. 176-181

https://doi.org/10.29806/TM.200806.0004

摘要

Muir-Torre syndrome為一種罕見的顯性遺癌症相關遺傳性皮膚病，臨床上的特徵與診斷依據為在病患身上合併發生皮脂腺腫瘤以及至少一個的內部器官惡性腫瘤。臟器惡性腫瘤以大腸直腸癌及泌尿道系統癌症最為常見，總共佔了四分之三的比例，其他較少發生的惡性腫瘤包括了上消化系統癌症、血癌、乳癌等，只有很少數的肺癌曾經被報告過。皮膚腫瘤及臟器腫瘤可能同時產生，也可能先後產生。Muir-Torre syndrome被認為是遺傳性非息肉性大腸癌(hereditary non-polyposis colorectal cancer)的一個亞型，主要是起因於錯配修復基因(mismatch repair gene)的突變，其中又以MSH2以及MLH1為主。在多數錯配修復基因突變的患部，也可發現有microsatellite instability的現象。臨床上可以藉由針對MSH2/MLH1的免疫組織化學檢查、microsatellite instability的測定、或是DNA序列突變的測定來幫助診斷Muir-Torre syndrome。Muir-Torre syndrome的患者易有多發的臟器惡性腫瘤，早期診斷Muir-Torre syndrome的重要性在於可以幫助患者及家屬監測和及早發現臟器惡性腫瘤，以達到早期治療的目的。我們在此報告一個因合併肺癌以及皮脂腺癌而被診斷為Muir-Torre syndrome的患者以及相關文獻的回顧。

關鍵字

Muir-Torre syndrome ； 肺癌 ； 皮脂腺癌 ； 鱗狀細胞癌 ； 錯配修復基因

並列摘要

Muir-Torre syndrome (MTS) is a rare cancer genodermatosis diagnosed by the presence of at least 1 sebaceous neoplasm and at least 1 internal malignancy. Colon cancers and urogenital malignancies account for 75% of the internal malignancies. Others, such as upper gastrointestinal, blood, breast, and, in rare cases, lung malignancies have been reported. Muir-Torre syndrome is considered a variant of hereditary nonpolyposis colorectal cancer and is secondary to germline mutation of the mismatch repair (MMR) genes MSH2 and MLH1. Microsatellite instability is usually observed in patients with MMR gene mutations. Immunohistochemistry studies of MSH2/MLH1 and microsatellite instability evaluations are helpful for screening patients and family members with Muir-Torre syndrome. Early and correct diagnosis of Muir-Torre syndrome is important as patients with Muir-Torre syndrome and family members who are gene carriers are prone to high risks of multiple internal malignancies. Careful survey and regular follow-up can help in detecting visceral lesions as early as possible. Few cases of Muir-Torre syndrome have been reported in Asian and African populations. This case describes a Taiwanese with squamous cell lung cancer and a sebaceous carcinoma with unusual immunochemistry staining results. The patient presents a subclass of Muir-Torre syndrome with different clinical characteristics and potentially different genetic pathways.

並列關鍵字

Muir-Torre syndrome ； lung cancer ； sebaceous carcinoma ； mismatch repair gene