Familial adenomatous polyposis is an autosomal dominated inherited disease, caused by the mutation of the tumour suppressor gene adenomatous polyposis coli on chromosome 5. Despite being a rare disorder, accounting for some 1% of colorectal cancers, it represents an interesting model of hereditary disease, because of its intrinsic characteristics, conventionally defined by the presence of more than 100 colorectal polyps, as well as extra-colon manifestations, the attenuated form of the disease, genetic aspects, the inevitable progression to colorectal cancer and hence the correct therapy to treat or prevent the fatal evolution of the disease. Surgical treatment is based above all on two techniques: ileorectal anastomosis, which requires careful surveillance of rectal remnant, and ileal pouch-anal anastomosis, which totally eradicates the disease. The suitability of using these two techniques is discussed in view of new genetic and clinical findings, acquired from personal experience and from the literature.
Familial adenomatous polyposis : surgical treatment: when and how / E. Contessini-Avesani, F. Botti, C. Negri, A. Carrara, B. Oreggia, F. Quadri, C. Bagni. - In: TECHNIQUES IN COLOPROCTOLOGY. - ISSN 1123-6337. - 8:suppl. 2(2004 Dec), pp. S309-S314. ((Intervento presentato al convegno Il polipo del colon-retto : dalla genetica alla terapia chirurgica nel 2004 [10.1007/s10151-004-0183-0].
Familial adenomatous polyposis : surgical treatment: when and how
E. Contessini-AvesaniPrimo
;F. BottiSecondo
;A. Carrara;C. BagniUltimo
2004
Abstract
Familial adenomatous polyposis is an autosomal dominated inherited disease, caused by the mutation of the tumour suppressor gene adenomatous polyposis coli on chromosome 5. Despite being a rare disorder, accounting for some 1% of colorectal cancers, it represents an interesting model of hereditary disease, because of its intrinsic characteristics, conventionally defined by the presence of more than 100 colorectal polyps, as well as extra-colon manifestations, the attenuated form of the disease, genetic aspects, the inevitable progression to colorectal cancer and hence the correct therapy to treat or prevent the fatal evolution of the disease. Surgical treatment is based above all on two techniques: ileorectal anastomosis, which requires careful surveillance of rectal remnant, and ileal pouch-anal anastomosis, which totally eradicates the disease. The suitability of using these two techniques is discussed in view of new genetic and clinical findings, acquired from personal experience and from the literature.File | Dimensione | Formato | |
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