Abstract
Muir-Torre syndrome is a rare, inherited disease predisposing of gastrointestinal and cutaneous tumours, such as keratoacanthomas and sebaceous gland adenomas. Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes. This report describes a man who has multiple adenomatous colon polyps, a gastric cancer, multiple colorectal cancers and sebaceous adenomas caused by biallelic MYH germline mutations. This finding demonstrates that MYH gene analysis should be considered in Muir-Torre families where no mismatch repair gene mutations have been found. Furthermore, this report contributes to characterize the clinical phenotype caused by biallelic mutations in MYH gene, which may share with other hereditary colon cancer syndromes.
This is a preview of subscription content, log in via an institution to check access.
Abbreviations
- MTS:
-
Muir-Torre syndrome
- HNPCC:
-
Hereditary nonpolyposis colon cancer
- MMR:
-
Mismatch repair
- MSI:
-
Microsatellite instability
- PCR:
-
Polymerase chain reaction
- MLPA:
-
Multiplex ligation-dependent probe amplification
- BER:
-
Base excision repair
- FAP:
-
Familial adenomatous polyposis
- CHRPE:
-
Congenital hypertrophy of the retinal pigment epithelium
References
Ponti G, Losi L, Pedroni M et al (2006) Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol 126(10):2302–2307
Ponti G, Ponz de Leon M, Maffei S et al (2005) Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 68:442–447
Ajith Kumar VK, Gold JA, Mallon E, Thomas S, Hodgson SV (2008) Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. Familial Cancer 7(2):187–189
Boland CR, Thibodeau SN, Hamilton SR et al (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
Al-Tassan N, Chmiel NH, Maynard J et al (2002) Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat Genet 30(2):227–232
Russell AM, Zhang J, Luz J et al (2006) Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer 118(8):1937–1940
Nielsen M, Franken PF, Reinards TH et al (2005) Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 42(9):e54
Aretz S, Uhlhaas S, Goergens H et al (2006) MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 119(4):807–814
Wang L, Baudhuin LM, Boardman LA et al (2004) MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 127(1):9–16
Baglioni S, Melean G, Gensini F et al (2005) A kindred with MYH-associated polyposis and pilomatricomas. Am J Med Genet 134A(2):212–214
Sampson JR, Dolwani S, Jones S et al (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39–41
Barnetson RA, Devlin L, Miller J et al (2007) Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet 72:551–555
Vasen HF, Moeslein G, Alonso A et al (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57(5):704–713
Balaguer F, Castellvi-Bel S, Castells A et al (2007) Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol 5(3):379–387
Acknowledgments
We thank all members of the Hereditary Cancer Program of the Comunidad Valenciana, Spain.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Guillén-Ponce, C., Castillejo, A., Barberá, V.M. et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome. Familial Cancer 9, 151–154 (2010). https://doi.org/10.1007/s10689-009-9309-x
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10689-009-9309-x