Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients

Human Mutation

Volumn 27, Issue 2, 2006, Pages 155-162

  Goldberg, M ^a   Rummelt, C ^b   Foja, S ^a   Holbach, L M ^b   Ballhausen, Wolfgang G ^a,c  

^a MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

Fragile histidine triad gene; Mismatch repair; Muir Torre syndrome; Promoter methylation; Sebaceous gland carcinoma

Indexed keywords

FRAGILE HISTIDINE TRIAD PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ALLELISM; ARTICLE; CONTROLLED STUDY; EXON; FHIT GENE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE INACTIVATION; GENE SILENCING; GENETIC ASSOCIATION; GENETIC EPIGENESIS; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; KNOCKOUT MOUSE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MLH1 GENE; MSH2 GENE; MSH6 GENE; MUIR TORRE SYNDROME; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATOR GENE; PERIOCULAR SEBACEOUS GLAND CARCINOMA; PRIORITY JOURNAL; SEBACEOUS GLAND TUMOR; SOMATIC MUTATION; TRANSCRIPTION REGULATION;

ACID ANHYDRIDE HYDROLASES; ADULT; AGED; BASE PAIR MISMATCH; CARCINOMA; DNA METHYLATION; EPIGENESIS, GENETIC; EYELID NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; NEOPLASM PROTEINS; SEBACEOUS GLAND NEOPLASMS; SYNDROME;

EID: 32544434387     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20281     Document Type: Article

References (38)

1. Arlt MF, Xu B, Durkin SG, Casper AM, Kastan MB, Glover TW. 2004. BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function. Mol Cell Biol 24:6701-6709.
2. Bapat B, Xia L, Madlensky L, Mitri A, Tonin P, Narod SA, Gallinger S. 1996. The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet 59:736-739.
3. Barnes LD, Garrison PN, Siprashvili Z, Guranowski A, Robinson AK, Ingram SW, Croce CM, Ohta M, Huebnet K. 1996. Fhit, a putative tumor suppressor in humans, is a dinucleoside 5′, 5″′-P1,P3-triphosphate hydrolase. Biochemistry 35:11529-11535.
4. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S. 1998. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58(22):5248-5257.
5. Casper AM, Nghiem P, Arlt MF, Glover TW. 2002. ATR regulates fragile site stability. Cell 111:779-789.
6. Conway RM, von Moller A, Ballhausen W, Junemann A, Holbach LM. 2004. Frequency and clinical features of visceral malignancy in a consecutive case series of patients with periocular sebaceous gland carcinoma. Graefes Arch Clin Exp Ophthalmol 242:674-678.
7. Edelmann W, Yang K, Umar A, Heyer J, Lau K, Fan K, Liedtke W, Cohen PE, Kane MF, Lipford JR, Yu N, Crouse GF, Pollard JW, Kunkel T, Lipkin M, Kolodner R, Kucherlapati R. 1997. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell 91:467-477.
8. Entius MM, Keller JJ, Drillenburg P, Kuypers KC, Giardiello FM, Offerhaus GJ. 2000. Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. Clin Cancer Res 6:1784-1789.
9. Foja SGM, Goldberg M, Schagdarsurengin U, Dammann R, Tannapfel A, Ballhausen WG. 2005. Promoter methylation and loss of coding exons of the fragile histidine triad (FHIT) gene in intrahepatic cholangiocarcinomas. Liver Int 25(6):1202-1208.
10. Fong LY, Fidanza V, Zanesi N, Lock LF, Siracusa LD, Mancini R, Siprashvili Z, Ottey M, Martin SE, Druck T, McCue PA, Croce CM, Hubener K. 2000. Muir-Torre-like syndrome in Fhit-deficient mice. Proc Natl Acad Sci USA 97:4742-4747.
11. Futaki M, Liu JM. 2001. Chromosomal breakage syndromes and the BRCA1 genome surveillance complex. Trends Mol Med 7:560-565.
12. Hall NR, Williams MA, Murday VA, Newton JA, Bishop DT. 1994. Muir-Torre syndrome: a variant of the cancer family syndrome. J Med Genet 31:627-631.
13. Hilgers W, Koerkamp BG, Geradts J, Tang DJ, Yeo CJ, Hruban RH, Kern SE. 2000. Genomic FHIT analysis in RER+ and RER-adenocarcinomas of the pancreas. Genes Chromosomes Cancer 27:239-243.
14. Holbach LM, von Moller A, Decker C, Junemann AG, Rummelt-Hofmann C, Ballhausen WG. 2002. Loss of fragile histidine triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome. Am J Ophthalmol 134:147-148.
15. Honchel R, Halling KC, Schaid DJ, Pittelkow M, Thibodeau SN. 1994. Microsatellite instability in Muir-Torre syndrome. Cancer Res 54:1159-1163.
16. Hu B, Han SY, Wang X, Ottey M, Potoczek MB, Dicker A, Huebner K, Wang Y. 2005. Involvement of the Fhit gene in the ionizing radiation-activated ATR/CHK1 pathway. J Cell Physiol 202:518-523.
17. Ishii H, Mimori K, Inageta T, Murakumo Y, Vecchione A, Mori M, Furukawa Y. 2005. Components of DNA damage checkpoint pathway regulate UV exposure-dependent alterations of gene expression of FHIT and WWOX at chromosome fragile sites. Mol Cancer Res 3:130-138.
18. Kruse R, Lamberti C, Wang Y, Ruelfs C, Bruns A, Esche C, Lehmann P, Ruzicka T, Rutten A, Friedl W, Propping P. 1996. Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet 98:747-750.
19. Kruse R, Rutten A, Lamberti C, Hosseiny-Malayeri HR, Wang Y, Ruelfs C, Jungck M, Mathiak M, Ruzicka T, Hartschuh W, Bisceglia M, Friedl W, Propping P. 1998. 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. Am J Hum Genet 63:63-70.
20. Kruse R, Rutten A, Schweiger N, Jakob E, Mathiak M, Propping P, Mangold E, Bisceglia M, Ruzicka T. 2003. Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias. J Invest Dermatol 120:858-864.
21. Lynch HT, Lynch PM, Pester J, Fusaro RM. 1981. The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. Arch Intern Med 141:607-611.
22. Marsischky GT, Filosi N, Kane MF, Kolodner R. 1996. Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair. Genes Dev 10:407-420.
23. Muir EG, Bell AJ, Barlow KA. 1967. Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face. Br J Surg 54:191-195.
24. Ottey M, Han SY, Druck T, Barnoski BL, McCorkell KA, Croce CM, Raventos-Suarez C, Fairchild CR, Wang Y, Huebner K. 2004. Fhit-deficient normal and cancer cells are mitomycin C and UVC resistant. Br J Cancer 91:1669-1677.
25. Pekarsky Y, Garrison PN, Palamarchuk A, Zanesi N, Aqeilan RI, Huebner K, Barnes LD, Croce CM. 2004. Fhit is a physiological target of the protein kinase Src. Proc Natl Acad Sci USA 101:3775-3779.
26. Peris K, Onorati MT, Keller G, Magrini F, Donati P, Muscardin L, Hofler H, Chimenti S. 1997. Widespread microsatellite instability in sebaceous tumors of patients with the Muir-Torre syndrome. Br J Dermatol 137:356-360.
27. Popp S, Waltering S, Herbst C, Moll I, Boukamp P. 2002. UV-B-type mutations and chromosomal imbalances indicate common pathways for the development of Merkel and skin squamous cell carcinomas. Int J Cancer 99:352-360.
28. Reiffers J, Laugier P, Hunziker N. 1976. [Sebaceous hyperplasias, kerato-acanthomas, epitheliomas of the face and cancer of the colon. A new entity?]. Dermatologica 153:23-33.
29. Reitmair AH, Redston M, Cai JC, Chuang TC, Bjerknes M, Cheng H, Hay K, Gallinger S, Bapat B, Mak TW. 1996. Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. Cancer Res 56:3842-3849.
30. Sancar A, Lindsey-Boltz LA, Unsal-Kacmaz K, Linn S. 2004. Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. Ann Rev Biochem 73:39-85.
31. Sard L, Accornero P, Tornielli S, Delia D, Bunone G, Campiglio M, Colombo MP, Gramegna M, Croce CM, Pierotti MA, Sozzi G. 1999. The tumor-suppressor gene FHIT is involved in the regulation of apoptosis and in cell cycle control. Proc Natl Acad Sci USA 96:8489-8492.
32. Schwartz RA, Torre DP. 1995. The Muir-Torre syndrome: a 25-year retrospective. J Am Acad Dermatol 33:90-104.
33. Shi Y, Zou M, Farid NR, Paterson MC. 2000. Association of FHIT (fragile histidine triad), a candidate tumor suppressor gene, with the ubiquitin-conjugating enzyme hUBC9. Biochem J 352 Pt 2:443-448.
34. Siprashvili Z, Sozzi G, Barnes LD, McCue P, Robinson AK, Eryomin V, Sard L, Tagliabue E, Greco A, Fusetti L, Schwartz G, Pierotti MA, Croce CM, Huebner K. 1997. Replacement of Fhit in cancer cells suppresses tumorigenicity. Proc Natl Acad Sci USA 94:13771-13776.
35. Sozzi G, Huebner K, Croce CM. 1998. FHIT in human cancer. Adv Cancer Res 74:141-166.
36. Torre D. 1968. Multiple sebaceous tumors. Arch Dermatol 98:549-551.
37. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J. 2000. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 14:927-939.
38. Yang G, Scherer SJ, Shell SS, Yang K, Kim M, Lipkin M, Kucherlapati R, Kolodner RD, Edelmann W. 2004. Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility. Cancer Cell 6:139-150.