True about Peutz jegher syndrome
Most common site is small intestine
Polypectomy on colonoscopy is treatment of choice
Hamaomatous polyp
All
Ans. is 'a' i.e., Most common site is small intestine; 'b' i.e., Polypectomy on colonoscopy is treatment of choice; 'c' i.e., Hamaomatous polyp Peutz -Jeghers syndrome o It is an autosomal dominant condition characterized by :? 1. Hamaomatous polyps in Small intestine -4 100% Colon --> 30% Stomach --> 25% 2. Extraintestinal carcinomas of pancreas, breast, ovary, lung and uterus. 3. Mucocutaneous pigmentation o Approximately 3% of patients develop intestinal adenocarcinoma. o The condition is caused by a mutation in the LKB1/STK11 gene which codes for a serine - threonine kinase that is thought to play a role in apoptosis. Clinical features o Most common age of involvement is between 20-30 years. o The major symptoms depend on the intestinal location of the polyps (i.e. small intestine, colon, stomach) :- (i) Intestinal obstruction & intussusception (43%) (ii) Abdominal pain (23%) (iii) Hematochezia (14%) (iv) Prolapse of colonic polyps (7%) o There may be mucocutaneous pigmentation :- (i) Cutaneous pigmentation :- Perioral & perinasal region, finger, toes (ii) Mucous membrane pigmentation :- Buccal mucosa o Other manifestations include precocious pubey, rectal mass (rectal polyp), testicular mass, gynecomastia and growth acceleration (due to seoli cell tumor). Treatment o Treatment consists of identification of the syndrome and careful monitoring of the tissues that are at risk for cancer development. o Intestinal polyps are usually removed (polypectomy) when discovered during colonoscopy.