Intestinal polyposis syndromes comprise of a group of diseases conditioned by the occurrence of hereditary mutations. In the Polish DNA bank of hereditary predisposition to polyposis we collected DNA samples derived from persons from families with a diagnosed adenomatous polyposis including familial adenomatous polyposis coli together with its recessive form, Turcot’s syndrome, inherited mixed ...

Research on the LKB1 tumor suppressor protein mutated in cancer-prone Peutz-Jeghers patients has continued at a feverish pace following exciting developments linking energy metabolism and cancer development. This review summarizes the current state of research on the LKB1 tumor suppressor. The weight of the evidence currently indicates an evolutionary conserved role for the protein in the regul...

Abstract Introduction : Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked the mutation of STK11 gene. Patients are at lifetime risk gastrointestinal non-gastrointestinal cancers. Case Presentation The present study offers case this in young woman revealed jejunal ...

Pigmentation of lips in Peutz-Jeghers syndrome. Development of cancer is related to both environmental carcinogens and genetic predisposition. Though the risk of a common cancer occurring in relatives ofan affected person is generally low, familial aggregations that cannot be explained by environmental factors alone exist in some O neoplasms, such as breast and ovarian cancers and melanomas. In...

It might be difficult to diagnose pigmented lesions of the mouth and perioral regions. Although several may correctly identified on basis clinical findings alone while epidemiology helpful in guiding clinician, histological examination is typically necessary for final diagnosis. Oral hyperpigmentation present exogenously/ endogenously; pathologically/physiologically. The differential diagnosis ...

Sex cord tumor with annular tubules (SCTATs) is a relatively rare ovarian neoplasm often having a syndromic association with Peutz-Jeghers syndrome (PJS). Other associations described with this rare neoplasm include adenoma malignum of cervix, Turners syndrome, dysgerminoma, gonadoblastoma, endometrial carcinoma, and endometriosis of fallopian tube. We describe for the first time to the best of...

Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterized by melanotic macules and hamartomatous polyps. Small-bowel surveillance in the pediatric PJS population is not designed to identify small-bowel malignancy, which is thought to arise in adulthood. A 13-year-old boy presented with lead-point intussusception, requiring emergent surgical resection. A ...

Peutz-Jeghers syndrome (PJS) is characterized by scattered black pigmentations on fingers and lips and multiple polyps in the gastrointestinal tract. Patients with PJS often have severe complications secondary to multiple large polyps. Herein, we present a young woman complicated with a large polyp in her colon without any clinical symptoms. We also emphasized the necessity of early diagnosis a...