Peutz-Jeghers syndrome

Abstract

Peutz-Jeghers syndrome (PJS) is an unusual polyposis syndrome that has enjoyed a rich and somewhat confusing history. Mucocutaneous pigmentation and diffuse gastrointestinal hamartomas are the hallmark features of this autosomal dominant inherited condition. Peutz-Jeghers syndrome is now also recognized as a cancer predisposition syndrome. In this review, we highlight the historical aspects of PJS polyposis with special emphasis on its extraintestinal manifestations, particularly genital tract tumors. A PJS management scheme for clinicians is included.

Unusual Presentation of Intussusception of the Small Bowel with Peutz Jeghers Syndrome: Report of a Case

“…The cause of PJS appears to be a germline mutation of the STK11/LKB1 (serine/threonine kinase 11) tumour suppressor gene in most of the cases (70-80%) [2,3]. Its incidence has been estimated to be one in 120000 births [4]. The affected patients usually present with recurrent abdominal pain which is caused by intermittent intussusception or with manifestations of gastrointestinal bleeding.…”

“…The sites which are most commonly affected by PeutzJeghers polyps in the gastrointestinal tract are the small bowel, colon, and stomach in decreasing frequency. The pedunculated nature of the polyps, combined with the large size to which the polyps can grow, can lead to recurrent intussusception in the small bowel [4]. There is an increased risk of gastrointestinal and non-gastrointestinal malignancies such as tumours of the breast, pancreas, lung, and reproductive tract in PJS patients.…”

“…Although there is a genetic predisposition to cancers, a histological evidence of a hamartomatous-adenomatous-carcinomatous evolution and a direct hamartoma-carcinoma sequence in PJS patients have been documented in the literature. In addition, PJS patients can have both adenomatous and hamartomatous polyps separately, especially in the large intestine, and a malignant transformation of a small bowel hamartoma to a leiomyosarcoma has been reported [4]. The diagnostic criteria for PJS, which was proposed by Giardello et al, [5], includes histopathological confirmation of a hamartomatous gastrointestinal polyp and two of the following features: small bowel polyposis (at least two), a positive family history, and mucocutaneous hyperpigmentation.…”

Gastrointestinal Inherited Polyposis Syndromes

“…Thus, PJS is now one of the several hereditary GI cancer syndromes (18,37,38). Well-documented reports of GI carcinoma in PJS have appeared (esophageal, gastric, small bowel, and colonic), and in some cases, associated dysplasia has been observed within the hamartoma itself (2,34). Most of the reported carcinomas of the gastrointestinal tract in PJS patients have not had evidence of origin from a hamartoma but rather derive from co-existing adenomas (2).…”

“…The melanin spots of PJS are present in Ͼ95% of patients and occur most commonly on the lips (95%) and buccal mucosa (66 -83%) but are found also on circumoral and facial skin around the eyes and nose, on the palms and soles, and on the digits (1, 2, 18, 31). The lip and circumoral spots tend to fade with age, whereas the buccal spots generally remain visible (1,2,(31)(32)(33)(34).…”