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MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
Tumori. 2011 Sep-Oct; 97(5):676-80.T

Abstract

AIMS AND BACKGROUND

The MutY human homologue gene (MUTYH) is responsible for about a quarter of attenuated familial adenomatous polyposis. Occasionally, it has been associated with hyperplastic polyps and serrated adenoma. We report a family where the same MUTYH mutation determined four different phenotypes, including a case of hyperplastic polyposis syndrome.

PATIENTS AND METHODS

A family with a history of right-sided colon cancer and multiple colonic polyposis was investigated. Genetic tests were correlated with clinical findings to define phenotypic manifestations of MUTYH mutations. The pertinent English-language literature was reviewed to evaluate the risk of malignancy of MUTYH and the role of prophylactic surgery.

RESULTS

Three male siblings carried a biallelic MUTYH mutation (G382D-exon13), while the fourth was heterozygote. One developed an isolated cecal cancer at the age of 48. Another, aged 38, was diagnosed with numerous minute colonic and rectal polyps and underwent a proctocolectomy, with final pathology showing a picture of hyperplastic and lymphoid polyposis. The third biallelic brother, 46 years old, developed four hyperplastic lesions, while the heterozygote brother had a large flat serrated adenoma of the right colon removed at the age of 50.

CONCLUSION

Many aspects of MUTYH mutation still need to be clarified and one of them regards the different phenotypic expressions. Although the majority of reported cases manifested attenuated adenomatous polyposis, hyperplastic polyps and serrated adenomas appear to be more common than expected. Presenting hyperplastic polyposis syndrome is very unusual and may represent a clinical dilemma for correct management. Current evidence suggests to handle MUTYH-associated polyposis as typical FAP.

Authors+Show Affiliations

Department of General Surgery, Colorectal Unit, University of Cagliari, Cagliari, Italy. gizorcolo@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

22158503

Citation

Zorcolo, Luigi, et al. "MUTYH-associated Colon Disease: Adenomatous Polyposis Is Only One of the Possible Phenotypes. a Family Report and Literature Review." Tumori, vol. 97, no. 5, 2011, pp. 676-80.
Zorcolo L, Fantola G, Balestrino L, et al. MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. Tumori. 2011;97(5):676-80.
Zorcolo, L., Fantola, G., Balestrino, L., Restivo, A., Vivanet, C., Spina, F., Cabras, F., Ambu, R., & Casula, G. (2011). MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. Tumori, 97(5), 676-80. https://doi.org/10.1700/989.10731
Zorcolo L, et al. MUTYH-associated Colon Disease: Adenomatous Polyposis Is Only One of the Possible Phenotypes. a Family Report and Literature Review. Tumori. 2011 Sep-Oct;97(5):676-80. PubMed PMID: 22158503.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. AU - Zorcolo,Luigi, AU - Fantola,Giovanni, AU - Balestrino,Luisa, AU - Restivo,Angelo, AU - Vivanet,Caterina, AU - Spina,Francesca, AU - Cabras,Francesco, AU - Ambu,Rossano, AU - Casula,Giuseppe, PY - 2011/12/14/entrez PY - 2011/12/14/pubmed PY - 2012/4/6/medline SP - 676 EP - 80 JF - Tumori JO - Tumori VL - 97 IS - 5 N2 - AIMS AND BACKGROUND: The MutY human homologue gene (MUTYH) is responsible for about a quarter of attenuated familial adenomatous polyposis. Occasionally, it has been associated with hyperplastic polyps and serrated adenoma. We report a family where the same MUTYH mutation determined four different phenotypes, including a case of hyperplastic polyposis syndrome. PATIENTS AND METHODS: A family with a history of right-sided colon cancer and multiple colonic polyposis was investigated. Genetic tests were correlated with clinical findings to define phenotypic manifestations of MUTYH mutations. The pertinent English-language literature was reviewed to evaluate the risk of malignancy of MUTYH and the role of prophylactic surgery. RESULTS: Three male siblings carried a biallelic MUTYH mutation (G382D-exon13), while the fourth was heterozygote. One developed an isolated cecal cancer at the age of 48. Another, aged 38, was diagnosed with numerous minute colonic and rectal polyps and underwent a proctocolectomy, with final pathology showing a picture of hyperplastic and lymphoid polyposis. The third biallelic brother, 46 years old, developed four hyperplastic lesions, while the heterozygote brother had a large flat serrated adenoma of the right colon removed at the age of 50. CONCLUSION: Many aspects of MUTYH mutation still need to be clarified and one of them regards the different phenotypic expressions. Although the majority of reported cases manifested attenuated adenomatous polyposis, hyperplastic polyps and serrated adenomas appear to be more common than expected. Presenting hyperplastic polyposis syndrome is very unusual and may represent a clinical dilemma for correct management. Current evidence suggests to handle MUTYH-associated polyposis as typical FAP. SN - 2038-2529 UR - https://www.unboundmedicine.com/medline/citation/22158503/MUTYH_associated_colon_disease:_adenomatous_polyposis_is_only_one_of_the_possible_phenotypes__A_family_report_and_literature_review_ L2 - http://journals.sagepub.com/doi/full/10.1700/989.10731?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -