RATIONALE A solitary Peutz-Jeghers-type polyp is a hamartomatous polyp which without either mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome (PJS). It can occur in all of the gastrointestinal tract, but it is extremely rare in the stomach. PATIENT CONCERNS A 53-year-old man was admitted to the local hospital with left upper abdominal pain lasting 2 weeks. A gastroscopy...

1402 CMAJ, September 6, 2011, 183(12) © 2011 Canadian Medical Association or its licensors A60-year-old nonsmoking Chinese woman presented with a 40-year history of progressive blackish pigmentation of her tongue, oral mucosa and lips (Figure 1A; Appendix 1, available at www.cmaj.ca /lookup /suppl/doi:10.1503/cmaj.110211/-/DC1). In addition, she had a 10-year history of longitudinal pigmented b...

Adenoma malignum (AM) is known to be one of the malignant tumors that is commonly associated with Peutz-Jeghers syndrome. Recently, the genetic locus of Peutz-Jeghers syndrome was mapped to the telomeric region of chromosome 19p. We analyzed nine sporadic cases of AM with high-density loss of heterozygosity to study the region of chromosome 19p13.2-13.3 using eight microsatellite markers. Our d...

Colon polyps represent precursor lesions of colon cancers and their malignant potential varies according to histological subtype. A rare subtype of colon polyps is the Peutz-Jeghers (PJ) polyp. PJ polyps mostly occur in the context of Peutz-Jeghers syndrome, which is characterized by the development of multiple polyps in the intestinal tract and hyperpigmentation of oral mucosa and lips. Peutz-...

Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general population. Here, we report the results of a screen for germline LKB1 mutations b...

Peutz-Jeghers syndrome (PJS) is a rare inherited autosomal dominant disease characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report on an 18-year-old Chinese male who complained with pigmentation on face and extremities for over 10 years. Colonoscopy revealed more than ten polyps from transverse colon to rectum. The family survey included 15 fami...

A solitary Peutz-Jeghers polyp is defined as a unique polyp occurring without associated mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome. Gastric solitary localization is a rare event, with only eight reported cases to date. We report herein the case of a 43-year old woman who presented with upper gastrointestinal bleeding, severe anemia, weight loss and asthenia. Endos...

Among 72 patients with the Peutz-Jeghers syndrome malignant tumours have developed in 16 (22%) of whom all but one have died. There were nine gastrointestinal and seven nongastrointestinal tumours. The relative risks of death from gastrointestinal cancer and all cancers were 13 (95% CI 2.7-38.1) and 9 (95% CI 4.2-17.3) respectively. The chance of dying of cancer by the age of 57 was 48%. There ...