Research Advance of Muir-Torre Syndrome_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

WANG Shilin ¹ , DA Jiping ² , GU Guoli. ¹

Department of General Surgery, General Hospital of Air Force, PLA, Beijing 100036,China;

Corresponding author：

Keywords：

Muir-Torre syndrome Hereditary nonpolyposis Skin tumor Colorectal cancer DNA mismatch repair genes

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【Abstract】ObjectiveTo review recent studies on Muir-Torre syndrome (MTS) and to improve the knowledge about MTS.
MethodsThe literatures in recent years on clinic and gene research of MTS were reviewed.
ResultsMTS was is a rare autosomal-dominant disorder characterized by the predisposition to both sebaceous tumors (or multiple keratoacanthomas) and internal malignancies. Gastrointestinal cancers were the most common kind of internal malignancies in MTS patients(61%)，followed by genitourinary cancers(22%). In most cases(56%)，sebaceous tumors appeared after the emergence of internal maliganancy. Both hereditary nonpolyposis colorectal cancer(HNPCC) and MTS were caused by germline mutations in the DNA mismatch repair genes. MTS patients exhibit significantly more mutations in the hMSH2 than in the hMLH1. In these cases , both internal and skin tumors showed the characteristic of high microsatellite instability(MSI).
ConclusionThe presence of sebaceous tumors(or multiple keratoacanthomas) necessitates the search for internal malignancies. It is mandatory that patients with MTS, as patients with HNPCC, should be regularly followed up to search new malignancies. Evaluation and monitoring of the family members of patients are also necessary. The patients and their families should be counseled for genetic test. Sequencing the hMSH2 gene should be the prior selection of further examinations when clinical manifestations, history and laboratory tests suggest MTS.

Citation： WANG Shilin,DA Jiping,GU Guoli.. Research Advance of Muir-Torre Syndrome. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2005, 12(2): 192-194. doi: Copy

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.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Research Advance of Muir-Torre Syndrome

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