Pathology - ​Multiple Polyposis Syndromes

Pathology - ​Multiple Polyposis Syndromes
Familial Adenomatous Polyps 
Etiology: Autosomal dominant disorder resulting from a mutation in the APC gene located on chromosome 5.
Clinical presentation: 500-2500 colonic adenomas are observed at puberty.
Treatment: Prophylactic colectomy (necessary to prevent 100% of cases from developing into colon cancer if not removed)

Hereditary nonpolyposis Colorectal Cancer 
Cause: An autosomal dominant disease is the result of a failure in DNA mismatch repair genes located on chromosome 2, 3, or 7.
Clinical symptoms: Early development of colonic adenomas in young adulthood raises the likelihood of developing colorectal cancer and other cancers, particularly endometrial cancer.
Treatment: Surgery

Peutz-Jeghers syndrome 
Etiology. Autosomal dominant genetic disorder.
Clinical features include palpable hamartomatous polyps in the colon and small intestine, as well as melanotic macules in the mouth, lips, hands, and genitalia. While there is no heightened risk of colorectal cancer, there is an increased susceptibility to stomach, breast, ovarian, pancreatic, uterine, or lung cancer.
Treatment: Regular monitoring for cancer.

Gardner Syndrome and Turcot Syndrome 
Cause: Autosomal dominant disorders linked to abnormalities in the APC gene on a certain chromosome.
Clinical symptoms: Gardner Syndrome is characterized by the presence of adenomatous polyps, osteomas, and soft-tissue tumors. Turcot Syndrome is characterized by the presence of adenomatous polyps with carcinoma in situ tumors. Both disorders have a higher risk of developing colorectal cancer. Treatment: Surgical removal