Hereditary Mixed Polyposis Syndrome - Own Experience

• Authors: Zbigniew Kamocki , Agata Piłaszewicz , Konrad Zaręba
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

hereditary mixed polyposis syndrome; HMPS; colorectal cancer; surgical treatment

• Publisher: De Gruyter Open
• Journal: Polish Journal of Surgery
• Year: 2012
• Volume: 84
• Issue: 5
• Pages: 262-266

Dates

published

1 - 5 - 2012

online

4 - 7 - 2012

Contributors

author

Zbigniew Kamocki

• 2 Department of General and Gastroenterological Surgery, Medical University in Białystok

author

Agata Piłaszewicz

• Laboratory of Medical Pathology, Medical University in Białystok

author

Konrad Zaręba

• 2 Department of General and Gastroenterological Surgery, Medical University in Białystok

References

• Whitelaw SC, Murday VA, Tomlinson IP et al.: Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology 1997; 112(2): 327-34.[Crossref][PubMed]
• Thomas HJ, Whitelaw SC, Cottrell SE et al.: Genetic Mapping of the Hereditary Mixed Polyposis Syndrome to Chromosome 6q. Am J Hum Genet 1996; 58: 770-76.
• Cheah PY, Wong YH, Chau YP et al.: Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis In Hereditary Mixed Polposis Syndrome. Am J Gastroenterol 2009; 104: 3027-33.[Crossref]
• Rozen P, Samuel Z, Brazowski E: A Prospective Study of the Clinical, Genetic, Screening, and Pathologic Features of a Family With Hereditary Mixed Polyposis Syndrome. Am J Gastroenterol 2003; 98: 2317-20.[Crossref][PubMed]
• Cao X, Eu KW, Kumarasinghe MP et al.: 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. J Med Genet 2006; 43: e13.
• Rocha Ramirez JL, Villanueva Saenz E, Hernandez-Magro PM et al.: Hereditary mixed polyposis syndrome. First report in Mexico. Rev Gastroenterol Mex 2005; 70(4): 430-33.[PubMed]
• Fernhead NS, Britton MP, Bodmer WF: The ABC of APC. Hum Mol Genet 2001; 10: 721.[Crossref]
• Aretz S: The Differential Diagnosis and Surveillance of Hereditary Gastrointestinal Polyposis Syndromes. Dtsch Arztebl Int 2010; 107(10): 163-73.[PubMed][WoS]
• Brazowski E, Misonzhnick-Bedny F, Rozen P: Cyclooxygenase-2 Expression In the Hereditary Mixed Polyposis Syndrome. Did Dis Sci 2004; 49(11-12): 1906-11.[Crossref]
• van Heel DA, McGovern DP, Jewell DP: Crohn's disease: genetic susceptibility, bacteria, and inna te immunity. Lancet 2001; 357: 1902.
• Kurzewski G, Suchy J, Kładny J: The NOD2 3020insC Mutation and the Risk of Colorectal Cancer. Cancer Res 2004; 64: 1604-06.
• Roberts RL, Gearry RB, Allington MD et al.: Caspase Recruitment Domain-Containing Protein 15 Mutations In Patients with Colorectal Cancer. Cancer Res 2006; 66: 2532-35.[Crossref][PubMed]
• Tuupanen S, Alhopuro P, Mecklin JP et al.: No evidence for association of NOD2 R702W and G908R with colorectal cancer. Int J Cancer 2007; 121: 76-79.
• Szeliga J, Sondka Z, Jackowski M et al.: NOD2/CARD15 polymorphism In patients with recital cancer. Med Sci Monit 2008; 14(9): CR480-84.
• Sarles JC, Consentino B, Leandri R et al.: Mixed familial polyposis syndromes. Int J Colorectal Dis 1987; 2: 96-99.[Crossref][PubMed]

Identifiers

DOI

10.2478/v10035-012-0044-x