Peutz jeghers syndrome

Peutz jeghers syndrome

1. Peutz Jeghers Syndrome

2. Peutz-Jeghers syndrome (PJS) Autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract mucocutaneous pigmentation an increased risk of gastrointestinal and nongastrointestinal cancer

3. Epidemiology and genetics Prevalence - 1:8000 to 1:200,000 births Males and females are equally affected . Autosomal dominant. Mutation of STK 11 gene . Chromosome 19p13 Mostly hereditary. Can also be sporadic in 10-20% cases

4. Clinical manifestations Mucocutaneous pigmentation Seen in 95% patients 1mm to 5mm in size. Appears by 1 or 2 years of age. Fades after puberty except buccal mucosa. Hamartomatous polyps. Most common in small bowel 60-90% esp jejunum. Stomach 15-30%, Colon 50% 50% asymptomatic at diagnosis. Can present with bleeding , obstruction, intussusception(in upto 70%).

5. Polyps- sessile, peductulated or lobulated. Can be single or multiple. Size 0.1 cm to more than 5 cm.

6. Gastrointestinal malignancy Colorectal – 39 percent Stomach – 29 percent Small bowel – 13 percent Pancreas – 11 to 36 percent Non GI Breast – 32-54% Cervix-10% Ovary 21% Sertoli cell tumors – 9%

7. Diagnosis A clinical diagnosis of Peutz-Jeghers syndrome (PJS) requires the presence of any  one  of the following: Two or more histologically confirmed Peutz-Jeghers (PJ) polyps Any number of PJ polyps detected in an individual who has a family history of PJS in a close relative Characteristic mucocutaneous pigmentation in an individual who has a family history of PJS in a close relative Any number of PJ polyps in an individual who also has characteristic mucocutaneous pigmentation If this criteria is met patients have to undergo STK11 gene mutation testing.

8. Management Endoscopic polypectomy . Double balloon enteroscopy Laparotomy and resection of bowel with on table enteroscopy and polypectomy .