True about Peutz jegher syndrome

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.