Hereditary Mixed Polyposis Syndrome - Own Experience
Hereditary mixed polyposis syndrome (HMPS) is a rare condition of unknown genetic origin. The paper presents 25-year clinical follow up in a female patient with multiple gastrointestinal tract polyps of varied histology. They most likely served as sites of multiple colorectal cancers development. Th...
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Published in | Polski przeglad chirurgiczny Vol. 84; no. 5; pp. 262 - 266 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
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Poland
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01.05.2012
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Abstract | Hereditary mixed polyposis syndrome (HMPS) is a rare condition of unknown genetic origin. The paper presents 25-year clinical follow up in a female patient with multiple gastrointestinal tract polyps of varied histology. They most likely served as sites of multiple colorectal cancers development. The clinical course is interesting in terms of diagnostics and therapy. The patient required extended genetic testing, intensive conservative treatment and numerous surgical procedures. This is the first case of HMPS presented in Polish publications. |
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AbstractList | Hereditary mixed polyposis syndrome (HMPS) is a rare condition of unknown genetic origin. The paper presents 25-year clinical follow up in a female patient with multiple gastrointestinal tract polyps of varied histology. They most likely served as sites of multiple colorectal cancers development. The clinical course is interesting in terms of diagnostics and therapy. The patient required extended genetic testing, intensive conservative treatment and numerous surgical procedures. This is the first case of HMPS presented in Polish publications. |
Author | Zaręba, Konrad Kamocki, Zbigniew Piłaszewicz, Agata |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22763303$$D View this record in MEDLINE/PubMed |
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References | R. Roberts (12) 2006; 66 E. Brazowski (9) 2004; 49 J. Rocha Ramirez (6) 2005; 70 S. Tuupanen (13) 2007; 121 H. Thomas (2) 1996; 58 X. Cao (5) 2006; 43 P. Cheah (3) 2009; 104 D. van Heel (10) 2001; 357 J. Szeliga (14) 2008; 14 J. Sarles (15) 1987; 2 S. Whitelaw (1) 1997; 112 S. Aretz (8) 2010; 107 N. Fernhead (7) 2001; 10 P. Rozen (4) 2003; 98 G. Kurzewski (11) 2004; 64 |
References_xml | – volume: 357 start-page: 1902 year: 2001 ident: 10 article-title: Crohn's disease: genetic susceptibility, bacteria, and inna te immunity publication-title: Lancet doi: 10.1016/S0140-6736(00)05091-1 contributor: fullname: D. van Heel – volume: 104 start-page: 3027 year: 2009 ident: 3 article-title: Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis In Hereditary Mixed Polposis Syndrome publication-title: Am J Gastroenterol doi: 10.1038/ajg.2009.542 contributor: fullname: P. Cheah – volume: 58 start-page: 770 year: 1996 ident: 2 article-title: Genetic Mapping of the Hereditary Mixed Polyposis Syndrome to Chromosome 6q publication-title: Am J Hum Genet contributor: fullname: H. Thomas – volume: 10 start-page: 721 year: 2001 ident: 7 article-title: The ABC of APC publication-title: Hum Mol Genet doi: 10.1093/hmg/10.7.721 contributor: fullname: N. Fernhead – volume: 121 start-page: 76 year: 2007 ident: 13 article-title: No evidence for association of NOD2 R702W and G908R with colorectal cancer publication-title: Int J Cancer doi: 10.1002/ijc.22651 contributor: fullname: S. Tuupanen – volume: 2 start-page: 96 year: 1987 ident: 15 article-title: Mixed familial polyposis syndromes publication-title: Int J Colorectal Dis doi: 10.1007/BF01647700 contributor: fullname: J. Sarles – volume: 70 start-page: 430 issue: 4 year: 2005 ident: 6 article-title: Hereditary mixed polyposis syndrome. First report in Mexico publication-title: Rev Gastroenterol Mex contributor: fullname: J. Rocha Ramirez – volume: 43 year: 2006 ident: 5 article-title: Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function publication-title: J Med Genet contributor: fullname: X. Cao – volume: 112 start-page: 327 issue: 2 year: 1997 ident: 1 article-title: Clinical and molecular features of the hereditary mixed polyposis syndrome publication-title: Gastroenterology doi: 10.1053/gast.1997.v112.pm9024286 contributor: fullname: S. Whitelaw – volume: 49 start-page: 1906 issue: 11-12 year: 2004 ident: 9 article-title: Cyclooxygenase-2 Expression In the Hereditary Mixed Polyposis Syndrome publication-title: Did Dis Sci doi: 10.1007/s10620-004-9591-2 contributor: fullname: E. Brazowski – volume: 98 start-page: 2317 year: 2003 ident: 4 article-title: A Prospective Study of the Clinical, Genetic, Screening, and Pathologic Features of a Family With Hereditary Mixed Polyposis Syndrome publication-title: Am J Gastroenterol doi: 10.1111/j.1572-0241.2003.07714.x contributor: fullname: P. Rozen – volume: 66 start-page: 2532 year: 2006 ident: 12 article-title: Caspase Recruitment Domain-Containing Protein 15 Mutations In Patients with Colorectal Cancer publication-title: Cancer Res doi: 10.1158/0008-5472.CAN-05-4165 contributor: fullname: R. Roberts – volume: 107 start-page: 163 issue: 10 year: 2010 ident: 8 article-title: The Differential Diagnosis and Surveillance of Hereditary Gastrointestinal Polyposis Syndromes publication-title: Dtsch Arztebl Int contributor: fullname: S. Aretz – volume: 14 issue: 9 year: 2008 ident: 14 article-title: NOD2/CARD15 polymorphism In patients with recital cancer publication-title: Med Sci Monit contributor: fullname: J. Szeliga – volume: 64 start-page: 1604 year: 2004 ident: 11 article-title: The NOD2 3020insC Mutation and the Risk of Colorectal Cancer publication-title: Cancer Res doi: 10.1158/0008-5472.CAN-03-3791 contributor: fullname: G. Kurzewski |
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SubjectTerms | Adenomatous Polyposis Coli - complications Adenomatous Polyposis Coli - genetics Adenomatous Polyposis Coli - surgery Adult colorectal cancer Colorectal Neoplasms - etiology Colorectal Neoplasms - pathology Colorectal Neoplasms - surgery Disease Progression Female Follow-Up Studies Genetic Predisposition to Disease hereditary mixed polyposis syndrome HMPS Humans Poland surgical treatment |
Title | Hereditary Mixed Polyposis Syndrome - Own Experience |
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