PeutZ-Jeghers syndrome

LKB1 Peutz-Jeghers syndrome hamartomas in the gastrointestinal tract... 

J.G., Epigenetic inactivation of LKBl in primary tumors associated with the Peutz-Jeghers syndrome. Oncogene, 19 (1), 164-168,2000. 

Most childhood cases of intussusception are idiopathic. Intussusception lead points such as a Meckel diverticulum, duplication cyst, polyp, or tumor (e.g. lymphoma) are uncommon in infants (<5% of cases). Intussusception lead points are more common in neonates, older children (> 5 years old), and cases restricted to the small intestine. For example, intussusception of the small intestine is common in Peutz-Jeghers syndrome, Schonlein-Henoch purpura, and after surgery. US allows... 

These syndromes are not as common as FAPS and include Peutz-Jeghers syndrome, multiple hamartoma syndrome (Cowden disease), juvenile polyposis (Fig. 3.18a), Cronkhite-Canada syndrome and Bannayna-Riley-Ruvalcaba syndrome. 

Adenocarcinoma of the pancreas in childhood is exceedingly rare, with the majority of patients diagnosed between 3 and 18 years. Abdominal pain and mass are the most common manifestations in the initial exam. This tumor has a bad prognosis in children, and patients with Peutz-Jeghers syndrome have been associated with a higher risk (xlOO-fold) of pancreatic adenocarcinoma. 

Tumors of the small intestine are rare in children and with the exception of the pre-malignant polyposis syndromes, such as Gardner syndrome and Peutz-Jeghers syndrome, a malignant lesion of the small bowel in children is extremely rare. 

Chen KT (1986) Female genital tract tumors in Peutz-Jeghers syndrome. Hum Pathol 17 858-861... 

Fig. 3.22. a Multiple polyps (arrows) in Peutz-Jeghers with malignant degeneration (adenocarcinoma), b This 12-year-old had a giant osteoma in the left frontal sinus Gardner syndrome... 

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