Peutz-Jeghers syndrome (PJS) is a dominantly inherited human disorder characterized by gastrointestinal hamartomatous polyposis and mucocutaneous melanin pigmentation. LKB1 (STK11) serine/threonine kinase is the product of the causative gene of PJS, which has been mapped to chromosome 19p13.3. However, several studies have produced results that are not consistent with a link between LKB1 gene m...

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease characterized by melanocytic macules, hamartomatous polyps and an increased risk for numerous cancers. The human LKB1 (hLKB1) gene encodes a serine/threonine protein kinase that is deficient in the majority of patients with PJS. The murine LKB1 (mLKB1) cDNA was isolated, sequenced and shown to produce a 2.4-kb transcript encoding a 4...

Mutations in the LKB1 tumor suppressor gene result in the Peutz-Jeghers syndrome, an autosomal dominant condition characterized by hamartomatous polyps of the gastrointestinal tract and a dramatically increased risk of epithelial malignancies at other sites, including the female reproductive tract. Here we show that female mice heterozygous for a null Lkb1 allele spontaneously develop highly in...

from june 1989, to june 1991, 58 patients with gi polyps were reviewed. except two patients who had multiple polyps, 56 had only one polyp. the size of polyps were 0.5 to 3 em in diameter. 51 (75%) of polyps were located in the rectosigmoid region, 25 (37%) were in the rectum and 26 (38%) in the sigmoid. (seventeen) (25%) polyps (two in right colon, four in transverse, and 11 in descending colo...

34 children aged 9 months to 12 years presenting with chronic and intermittent rectal bleeding were diagnosed as having colorectal polyps by fiberoptic colonoscopy performed under sedation. bleeding per rectum (mean duration, 15 months) was the chief presenting symptom and was present in 97% of these patients. in 85% of patients polypectomy was carried out without using general anesthesia. 7r% ...

INTRODUCTION Germline mutations of the STK11/LKB1 tumour suppressor gene (19p13.3) are responsible for Peutz-Jeghers syndrome (PJS), a rare genetic disorder, which is dominantly inherited. In addition to the typical hamartomatous gastrointestinal polyps and perioral pigmented lesions, PJS is also associated with the development of tumours in various sites. No specific follow up has yet been eva...

background: colonoscopy is used for both diagnostic as well as therapeutic purposes in patients with lower gi symptoms. the aim of this study was to assess the clinical manifestations and to determine the colonoscopic findings of children with lower gi symptoms attending a pediatric hospital in tehran. materials and methods: during a 5-year period (1996-2001), all children less than 16 years of...

Peutz-Jeghers syndrome (PJS) is a dominantly inherited disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. Germ line mutations in LKB1 cause PJS. We have generated mice carrying an Lkb1 exon 2 to 8 deletion by gene targeting in embryonic stem cells. Heterozygotes develop gastric hamartomas that are histologically similar to those found in huma...

There are multiple hereditary and non-hereditary polyposis syndromes that were originally categorized as adenomatous or hamartomatous. More recently, serrated polyps and their syndromes have been defined. Nearly all of these syndromes have a risk of colorectal cancer in the individuals and affected family members. Most of these syndromes are associated with extracolonic manifestations, includin...

Approximately 6% of colorectal cancers can be attributed to recognizable heritable germline mutations. Familial adenomatous polyposis is an autosomal dominant syndrome classically presenting with hundreds to thousands of adenomatous colorectal polyps that are caused by mutations in the APC gene. Adenomas typically develop in the midteens in these patients, and colorectal cancer is a virtual cer...