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Pathology definition - Multiple Polyposis Syndrome
Multiple polyposis syndrome
There are a few disorders which are characterized by multiple polyposis syndrome. These include Peutz Jeghers syndrome, familial adenomatous polyposis, Gardner syndrome and Turcot syndrome and hereditary non polyposis colorectal cancer.
Peutz Jeghers syndrome, familial adenomatous polyposis, Gardner syndrome and Turcot syndrome and hereditary non polyposis colorectal cancer are part of autosomal dominant condition.
Peutz Jeghers syndrome is presented with an increase risks of developing lung carcinoma, breast carcinoma, uterine carcinoma, ovarian carcinoma and pancreatic carcinoma. Peutz- Jeghers syndrome is not associated with colorectal adenocarcinoma. Pathologically Peutz - Jeghers syndrome presented with palpable non neoplastic hamartomamous polyps int he small intestines and colon.Observe patient for any melanotic macules in the patient’s hands, lips, mouth and genitalia.
Familial adenomatous polyposis occur due to mutation of the chromosome 5 which coded for the APC gene. There is a high chances of developing colorectal adenocarcinoma in patient who suffer from familial adenomatous polyposis. During puberty, patient may present with around 2500 colonic adenomas. The treatment include prophylactic colectomy.
Gardner syndrome and Turcot syndrome are associated with defect in APC gene which is coded in the chromosomes 5. Gardner syndrome and Turcot syndrome carry high risk of developing colorectal carcinoma. Turcot syndrome may present with tumor of the central nervous system and adenomatous polyps.Gardner syndrome may present with osteomas of the soft tissue and adenomatous polyps. The treatment include surgical resection.
Hereditary non polyposis colorectal carcinoma is caused by defect in the DNA mismatch repair genes due to mutation on the chromosome 2, 3 and 7. There are high risk of developing endometrial cancer and colorectal adenocarcinoma. Patient may present with colonic adenomas in adulthood. The treatment include surgical resection.
References
1.Smith, William G. “Multiple Polyposis, Gardner’s Syndrome and Desmoid Tumors.” Diseases of the Colon & Rectum 1, no. 5 (September 1, 1958): 323–332. doi:10.1007/BF02616659.
2.Weiner, Robert S., and Philip Cooper. “Multiple Polyposis of the Colon, Osteomatosis and Soft-Tissue Tumors.” New England Journal of Medicine 253, no. 19 (1955): 795–799. doi:10.1056/NEJM195511102531901.
There are a few disorders which are characterized by multiple polyposis syndrome. These include Peutz Jeghers syndrome, familial adenomatous polyposis, Gardner syndrome and Turcot syndrome and hereditary non polyposis colorectal cancer.
Peutz Jeghers syndrome, familial adenomatous polyposis, Gardner syndrome and Turcot syndrome and hereditary non polyposis colorectal cancer are part of autosomal dominant condition.
Peutz Jeghers syndrome is presented with an increase risks of developing lung carcinoma, breast carcinoma, uterine carcinoma, ovarian carcinoma and pancreatic carcinoma. Peutz- Jeghers syndrome is not associated with colorectal adenocarcinoma. Pathologically Peutz - Jeghers syndrome presented with palpable non neoplastic hamartomamous polyps int he small intestines and colon.Observe patient for any melanotic macules in the patient’s hands, lips, mouth and genitalia.
Familial adenomatous polyposis occur due to mutation of the chromosome 5 which coded for the APC gene. There is a high chances of developing colorectal adenocarcinoma in patient who suffer from familial adenomatous polyposis. During puberty, patient may present with around 2500 colonic adenomas. The treatment include prophylactic colectomy.
Gardner syndrome and Turcot syndrome are associated with defect in APC gene which is coded in the chromosomes 5. Gardner syndrome and Turcot syndrome carry high risk of developing colorectal carcinoma. Turcot syndrome may present with tumor of the central nervous system and adenomatous polyps.Gardner syndrome may present with osteomas of the soft tissue and adenomatous polyps. The treatment include surgical resection.
Hereditary non polyposis colorectal carcinoma is caused by defect in the DNA mismatch repair genes due to mutation on the chromosome 2, 3 and 7. There are high risk of developing endometrial cancer and colorectal adenocarcinoma. Patient may present with colonic adenomas in adulthood. The treatment include surgical resection.
References
1.Smith, William G. “Multiple Polyposis, Gardner’s Syndrome and Desmoid Tumors.” Diseases of the Colon & Rectum 1, no. 5 (September 1, 1958): 323–332. doi:10.1007/BF02616659.
2.Weiner, Robert S., and Philip Cooper. “Multiple Polyposis of the Colon, Osteomatosis and Soft-Tissue Tumors.” New England Journal of Medicine 253, no. 19 (1955): 795–799. doi:10.1056/NEJM195511102531901.
