Muir-Torre綜合征的研究進展_《中國普外基礎與臨床雜志》

作者：

王石林 ¹ , 笪冀平 ² , 顧國利 ¹

1.空軍總醫院普通外科（北京100036）;;
2.空軍總醫院病理科;

關鍵詞：

Muir-Torre綜合征遺傳性非息肉性皮膚腫瘤結直腸腫瘤 DNA錯配修復基因

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摘要 全文 圖表 視頻 參考文獻 施引文獻 補充材料

【摘要】目的探討近年來Muir-Torre綜合征的研究進展，提高對Muir-Torre綜合征的認識。
方法采用文獻回顧的方法，對近年來Muir-Torre綜合征的臨床和基因研究進展加以綜述。
結果Muir-Torre綜合征是一種罕見的顯性遺傳性疾病，其特點是患者易患皮脂腺腫瘤(或多發角化棘皮瘤)和內臟惡性腫瘤。后者以胃腸道惡性腫瘤最常見(61%)，次為泌尿生殖腫瘤(22%)。大多數患者(56%)皮脂腺腫瘤在內臟惡性腫瘤之后出現。此病與遺傳性非息肉病性大腸癌(HNPCC)都起因于DNA錯配修復基因的種系突變，其中hMSH2基因突變多于hMLH1基因突變。MuirTorre綜合征的內臟腫瘤和皮膚腫瘤中都具有高度微衛星不穩定性(MSI)的特點。
結論對存在皮脂腺腫瘤(或多發角化棘皮瘤)的患者應注意尋找有無內臟惡性腫瘤，并進行定期隨訪，同時對患者和其家系成員應進行基因檢測。當病史、臨床特點、實驗室檢查提示Muir-Torre綜合征時，首先應選擇hMSH2基因測序。

引用本文： 王石林,笪冀平,顧國利. Muir-Torre綜合征的研究進展. 中國普外基礎與臨床雜志, 2005, 12(2): 192-194. doi: 復制

1.	Muir EG, Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face [J].　　Br J Surg，　1967;　54(3)191.
2.	Torre D. Multiple sebaceous tumors [J].　 Arch Dermatol，　1968;　98(5)549.
3.	Bakker PM, Tjon A， Joe SS. Multiple sebaceous gland tumours, with multiple tumours of internal organs. A new syndrome? [J].　 Dermatologica, 1971; 142(1)50.
4.	Fahmy A, Burgdorf WH, Schosser RH, et al. MuirTorre syndrome: report of a case and reevaluation of the dermatopathologic features [J].　 Cancer. 1982; 49(9)1898.
5.	Akhtar S, Oza KK, Khan SA, et al. MuirTorre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature [J].　 J Am Acad Dermatol, 1999; 41(5 Pt 1)681.
6.	Halling KC, Honchel R, Pittelkow MR, et al. Microsatellite instability in keratoacanthoma [J].　 Cancer, 1995; 76(10)1765.
7.	Kruse R, Rutten A, Schweiger N, et al. Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias [J].　 J Invest Dermatol, 2003; 120(5)858.
8.	Schwartz RA, Torre DP. The MuirTorre syndrome: a 25year retrospect [J].　 J Am Acad Dermatol, 1995; 33(1)90.
9.	Kruse R, Rutten A, Lamberti C, et al. MuirTorre phenotype has a frequency of DNA mismatchrepairgene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria [J].　 Am J Hum Genet, 1998; 63(1)63.
10.	Rothenberg J, Lambert WC, Vail JT Jr, et al. The MuirTorre (Torre’s) syndrome: the significance of a solitary sebaceous tumor [J].　 J Am Acad Dermatol, 1990; 23(4 Pt 1)638.
11.	Mathiak M, Rutten A, Mangold E, et al. Loss of DNA mismatch repair proteins in skin tumors from patients with MuirTorre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test [J].　 Am J Surg Pathol, 2002; 26(3)338.
12.	Cohen PR, Kohn SR, Davis DA, et al. MuirTorre syndrome [J].　 Dermatol Clin, 1995;13(1)79.
13.	Wang Q, Lasset C, Desseigne F, et al. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer [J].　 Hum Genet, 1999; 105(1-2)79.
14.	Kubota T, Dakeishi M, Nozaki J, et al. Probable involvement of a germline mutation of an unknown mismatch repair gene in a Japanese MuirTorre syndrome phenotype [J].　 J Dermatol Sci, 2000; 23(2)117.
15.	Honchel R, Halling KC, Schaid DJ, et al. Microsatellite instability in MuirTorre syndrome [J].　 Cancer Res, 1994; 54(5)1159.
16.	Machin P, Catasus L, Pons C, et al. Microsatellite instability and immunostaining for MSH2 and MLH1 in cutaneous and internal tumors from patients with the MuirTorre syndrome [J].　 J Cutan Pathol, 2002; 29(7)415.
17.	Rutten A, Burgdorf W, Hugel H, et al. Cystic sebaceous tumors as marker lesions for the MuirTorre syndrome: a histopathologic and molecular genetic study [J].　 Am J Dermatopathol, 1999; 21(5)405.
18.	Langenbach N, Kroiss MM, Ruschoff J, et al. Assessment of microsatellite instability and loss of heterozygosity in sporadic keratoacanthomas [J].　 Arch Dermatol Res, 1999; 291(1)1.
19.	Swale VJ, Quinn AG, Wheeler JM, et al. Microsatellite instability in benign skin lesions in hereditary nonpolyposis colorectal cancer syndrome [J].　 J Invest Dermatol, 1999; 113(6)901.
20.	Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MSH2 locus and analysis of two MuirTorre kindreds for msh2 mutations [J].　 Genomics, 1994; 24(3)516.
21.	Suspiro A, Fidalgo P, Cravo M, et al. The MuirTorre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation [J].　 Am J Gastroenterol, 1998; 93(9)1572.
22.	Godard V, Coulet F, Bernaudin JF, et al. Mutation in the MSH2 gene in MuirTorre syndrome [J].　 Ann Dermatol Venereol, 1999; 126(8-9)600.
23.	Dore MX, Dieumegard B, Grandjouan S, et al. MuirTorre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis [J].　 Ann Dermatol Venereol, 1999; 126(8-9)582.

1. Muir EG, Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face [J].　　Br J Surg，　1967;　54(3)191.
2. Torre D. Multiple sebaceous tumors [J].　 Arch Dermatol，　1968;　98(5)549.
3. Bakker PM, Tjon A， Joe SS. Multiple sebaceous gland tumours, with multiple tumours of internal organs. A new syndrome? [J].　 Dermatologica, 1971; 142(1)50.
4. Fahmy A, Burgdorf WH, Schosser RH, et al. MuirTorre syndrome: report of a case and reevaluation of the dermatopathologic features [J].　 Cancer. 1982; 49(9)1898.
5. Akhtar S, Oza KK, Khan SA, et al. MuirTorre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature [J].　 J Am Acad Dermatol, 1999; 41(5 Pt 1)681.
6. Halling KC, Honchel R, Pittelkow MR, et al. Microsatellite instability in keratoacanthoma [J].　 Cancer, 1995; 76(10)1765.
7. Kruse R, Rutten A, Schweiger N, et al. Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias [J].　 J Invest Dermatol, 2003; 120(5)858.
8. Schwartz RA, Torre DP. The MuirTorre syndrome: a 25year retrospect [J].　 J Am Acad Dermatol, 1995; 33(1)90.
9. Kruse R, Rutten A, Lamberti C, et al. MuirTorre phenotype has a frequency of DNA mismatchrepairgene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria [J].　 Am J Hum Genet, 1998; 63(1)63.
10. Rothenberg J, Lambert WC, Vail JT Jr, et al. The MuirTorre (Torre’s) syndrome: the significance of a solitary sebaceous tumor [J].　 J Am Acad Dermatol, 1990; 23(4 Pt 1)638.
11. Mathiak M, Rutten A, Mangold E, et al. Loss of DNA mismatch repair proteins in skin tumors from patients with MuirTorre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test [J].　 Am J Surg Pathol, 2002; 26(3)338.
12. Cohen PR, Kohn SR, Davis DA, et al. MuirTorre syndrome [J].　 Dermatol Clin, 1995;13(1)79.
13. Wang Q, Lasset C, Desseigne F, et al. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer [J].　 Hum Genet, 1999; 105(1-2)79.
14. Kubota T, Dakeishi M, Nozaki J, et al. Probable involvement of a germline mutation of an unknown mismatch repair gene in a Japanese MuirTorre syndrome phenotype [J].　 J Dermatol Sci, 2000; 23(2)117.
15. Honchel R, Halling KC, Schaid DJ, et al. Microsatellite instability in MuirTorre syndrome [J].　 Cancer Res, 1994; 54(5)1159.
16. Machin P, Catasus L, Pons C, et al. Microsatellite instability and immunostaining for MSH2 and MLH1 in cutaneous and internal tumors from patients with the MuirTorre syndrome [J].　 J Cutan Pathol, 2002; 29(7)415.
17. Rutten A, Burgdorf W, Hugel H, et al. Cystic sebaceous tumors as marker lesions for the MuirTorre syndrome: a histopathologic and molecular genetic study [J].　 Am J Dermatopathol, 1999; 21(5)405.
18. Langenbach N, Kroiss MM, Ruschoff J, et al. Assessment of microsatellite instability and loss of heterozygosity in sporadic keratoacanthomas [J].　 Arch Dermatol Res, 1999; 291(1)1.
19. Swale VJ, Quinn AG, Wheeler JM, et al. Microsatellite instability in benign skin lesions in hereditary nonpolyposis colorectal cancer syndrome [J].　 J Invest Dermatol, 1999; 113(6)901.
20. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MSH2 locus and analysis of two MuirTorre kindreds for msh2 mutations [J].　 Genomics, 1994; 24(3)516.
21. Suspiro A, Fidalgo P, Cravo M, et al. The MuirTorre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation [J].　 Am J Gastroenterol, 1998; 93(9)1572.
22. Godard V, Coulet F, Bernaudin JF, et al. Mutation in the MSH2 gene in MuirTorre syndrome [J].　 Ann Dermatol Venereol, 1999; 126(8-9)600.
23. Dore MX, Dieumegard B, Grandjouan S, et al. MuirTorre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis [J].　 Ann Dermatol Venereol, 1999; 126(8-9)582.

《中國普外基礎與臨床雜志》

Muir-Torre綜合征的研究進展

摘要 全文 圖表 視頻 參考文獻 施引文獻 補充材料

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《中國普外基礎與臨床雜志》

Muir-Torre綜合征的研究進展

摘要 全文 圖表 視頻 參考文獻 施引文獻 補充材料

Format

Content

摘要全文圖表視頻參考文獻施引文獻補充材料