Peutz-Jeghers Syndrome

Epidemiology and Etiology:

· Autosomal dominant

· STK11 (LKB1) mutations (chr 19)

· Serine/threonine kinase activity

Common sites:

·

Gross features:

· GI tract:

· Multiple hamartomatous polyps throughout the entire GI tract

· Skin & oral mucosa:

· Melanotic pigmentation

· Ovary:

· Sex-cord stromal tumours

· Carcinoma

· Cervix:

· Adenoma malignum

· Testis

· Sertoli cell tumours

· Pancreas:

· Carcinoma

· Breast:

· Carcinoma

· Lung:

· Carcinoma

· Uterus:

· Carcinoma

Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

·

Other features:

· Intussusception is a common cause of mortality

· Hamartomatous polyps have no malignant potential

References:

· Kumar V, Fausto N, Abbas A. Robbins & Cotran Pathologic Basis of Disease, Seventh Edition. 7th ed. Saunders; 2004:1552.