Chapter 087. Gastrointestinal Tract Cancer (Part 8)

Table 87-5 Hereditable (Autosomal Dominant) Gastrointestinal Polyposis Syndromes Syndrom e Distribu Histolo nant Malig Associated Lesions tion of Polyps gic Type Potential Familial adenomatous polyposis Large intestine a Adenom on Comm None Gardner's Large Adenom Comm Osteomas, syndrome and intestines small a on fibromas, lipomas, epidermoid cysts, ampullary cancers, congenital hypertrophy retinal of pigment epithelium Turcot's syndrome Large intestine a Adenom on Comm tumors Brain Nonpoly Large Adenom on Comm al Endometri and ovarian posis syndrome intestine (often a (Lynch syndrome) proximal) tumors PeutzJeghers syndrome and Small large oma Hamart Rare eous Mucocutan intestines, pigmentation; stomach tumors ovary, pancreas, of the breast, endometrium Juvenile polyposis and Large small oma, Hamart rarely Rare . | Chapter 087. Gastrointestinal Tract Cancer Part 8 Table 87-5 Hereditable Autosomal Dominant Gastrointestinal Polyposis Syndromes Syndrom e Distribu tion of Polyps Histolo gic Type Malig nant Potential Associated Lesions Familial adenomatous polyposis Large intestine Adenom a Comm on None Gardner s Large Adenom Comm Osteomas syndrome and small intestines a on fibromas lipomas epidermoid cysts ampullary cancers congenital hypertrophy of retinal pigment epithelium Turcot s syndrome Large intestine Adenom a Comm on Brain tumors Nonpoly posis syndrome Lynch syndrome Large intestine often proximal Adenom a Comm on Endometri al and ovarian tumors Peutz- Jeghers syndrome Small and large intestines Hamart oma Rare Mucocutan eous pigmentation stomach tumors of the ovary breast pancreas endometrium Juvenile polyposis Large and small intestines stomach Hamart oma rarely progressing to adenoma Rare Various congenital abnormalities Polyposis Coli Polyposis coli familial polyposis of the colon is a rare condition characterized by the appearance of thousands of adenomatous polyps throughout the large bowel. It is transmitted as an autosomal dominant trait the occasional patient with no family history probably developed the condition due to a spontaneous mutation. Polyposis coli is associated with a deletion in the long arm of chromosome 5 including the APC adenomatous polyposis coli gene in both neoplastic somatic mutation and normal germline mutation cells. The loss of this genetic material . allelic loss results in the absence of tumor-suppressor genes whose protein products would normally inhibit neoplastic growth. The presence of soft tissue and bony tumors congenital hypertrophy of the .