The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family

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dc.contributor.authorAlgar, U
dc.contributor.authorDuffield, M
dc.contributor.authorGoldberg, P A
dc.contributor.authorRamesar, R
dc.contributor.authorVorster, A
dc.contributor.authorIbirogba, S B
dc.date.accessioned2016-01-19T08:58:53Z
dc.date.available2016-01-19T08:58:53Z
dc.date.issued2008
dc.date.updated2016-01-19T07:13:40Z
dc.description.abstractBackground: Hereditary mixed polyposis syndrome is characterised by multiple large-bowel polyps of differing histological types including a mixture of atypical juvenile polyps, hyperplastic polyps and adenomas. Affected individuals are thought to have an increased risk of malignancy, possibly via the juvenile polyposis pathway. Methods: A 51-year-old woman (with a history of a colectomy for polyps during childhood) presented with rectal bleeding. Endoscopy demonstrated small rectal polyps which were hyperplastic on histology. A family tree was drawn up and the three children of the proband underwent flexible sigmoidoscopy. Results: Endoscopic surveillance of the three children revealed one who had a similar phenotype to the mother. This child underwent colectomy and ileorectal anastomosis. The pathological specimen revealed more than 70 polyps, with a combination of juvenile retention, hyperplastic, adenomatous and inflammatory polyps. A second child had multiple small hyperplastic polyps, and the third had a normal colon. Although the gene locus for the disorder has been mapped, neither the gene nor the disease-causing mutation has been defined. Conclusion: A rare inherited polyposis syndrome has been identified in a South African family. Where clinical suspicion of a possible inherited condition exists, investigating at-risk first-degree relatives confirms the inherited nature of the disease. It is possible to use genetic haplotyping (i.e. with a range of markers in the area of the gene) to provide statistical risk to immediate relatives and therefore those at highest risk.en_ZA
dc.identifier.apacitationAlgar, U., Duffield, M., Goldberg, P. A., Ramesar, R., Vorster, A., & Ibirogba, S. B. (2008). The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family. <i>South African Journal of Surgery</i>, http://hdl.handle.net/11427/16425en_ZA
dc.identifier.chicagocitationAlgar, U, M Duffield, P A Goldberg, R Ramesar, A Vorster, and S B Ibirogba "The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family." <i>South African Journal of Surgery</i> (2008) http://hdl.handle.net/11427/16425en_ZA
dc.identifier.citationIbirogba, S. B., Algar, U., Goldberg, P. A., Duffield, M., Vorster, A., & Ramesar, R. (2008). The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family: case report. South African Journal of Surgery, 46(3), 90-92.en_ZA
dc.identifier.issn0038-2361en_ZA
dc.identifier.ris TY - Journal Article AU - Algar, U AU - Duffield, M AU - Goldberg, P A AU - Ramesar, R AU - Vorster, A AU - Ibirogba, S B AB - Background: Hereditary mixed polyposis syndrome is characterised by multiple large-bowel polyps of differing histological types including a mixture of atypical juvenile polyps, hyperplastic polyps and adenomas. Affected individuals are thought to have an increased risk of malignancy, possibly via the juvenile polyposis pathway. Methods: A 51-year-old woman (with a history of a colectomy for polyps during childhood) presented with rectal bleeding. Endoscopy demonstrated small rectal polyps which were hyperplastic on histology. A family tree was drawn up and the three children of the proband underwent flexible sigmoidoscopy. Results: Endoscopic surveillance of the three children revealed one who had a similar phenotype to the mother. This child underwent colectomy and ileorectal anastomosis. The pathological specimen revealed more than 70 polyps, with a combination of juvenile retention, hyperplastic, adenomatous and inflammatory polyps. A second child had multiple small hyperplastic polyps, and the third had a normal colon. Although the gene locus for the disorder has been mapped, neither the gene nor the disease-causing mutation has been defined. Conclusion: A rare inherited polyposis syndrome has been identified in a South African family. Where clinical suspicion of a possible inherited condition exists, investigating at-risk first-degree relatives confirms the inherited nature of the disease. It is possible to use genetic haplotyping (i.e. with a range of markers in the area of the gene) to provide statistical risk to immediate relatives and therefore those at highest risk. DA - 2008 DB - OpenUCT DP - University of Cape Town J1 - South African Journal of Surgery LK - https://open.uct.ac.za PB - University of Cape Town PY - 2008 SM - 0038-2361 T1 - The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family TI - The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family UR - http://hdl.handle.net/11427/16425 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/16425
dc.identifier.vancouvercitationAlgar U, Duffield M, Goldberg PA, Ramesar R, Vorster A, Ibirogba SB. The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family. South African Journal of Surgery. 2008; http://hdl.handle.net/11427/16425.en_ZA
dc.languageengen_ZA
dc.publisherHealth and Medical Publishing Groupen_ZA
dc.publisher.departmentDepartment of Surgeryen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsCreative Commons Attribution 4.0 International (CC BY 4.0)*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_ZA
dc.sourceSouth African Journal of Surgeryen_ZA
dc.source.urihttp://www.sajs.org.za/index.php/sajs
dc.titleThe clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African familyen_ZA
dc.typeJournal Articleen_ZA
uct.subject.keywordspolyposisen_ZA
uct.subject.keywordsSouth Africaen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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