STK11 status and intussusception risk in Peutz-Jeghers syndrome
نویسندگان
چکیده
منابع مشابه
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
P eutz-Jeghers syndrome (PJS; OMIM #175200) is an autosomal dominant disorder characterised by mucocutaneous melanin pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk for the development of various neoplasms. 2 Malignancies occur both in the gastrointestinal tract and in extraintestinal sites such as the pancreas, the breast, and reproductive organs. The estimated re...
متن کاملComplete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome
Myeong Sun Jang, M.D., Yoo Min Lee, M.D., Bong Min Ko, M.D., Goeun Kang, M.D., Jong-Won Kim, M.D., and Yong Hee Hong, M.D. Department of Pediatrics and Digestive Disease Center and Research Institute, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon; Department of Laboratory Medicine, Mokpo Hankook Hospital, Mokpo; Department of Laboratory Medicine and Clin...
متن کاملIntussusception secundary to Peutz-Jeghers syndrome
El síndrome de Peutz-Jeghers es una condición familiar caracterizada por la presencia de manchas cutáneas hiperpigmentadas y poliposis intestinal. La invaginación intestinal es la complicación abdominal más frecuente, pero es muy rara. Éste es el segundo reporte que se comunica en nuestro país. En este artículo presentamos cuatro pacientes que sufrieron el síndrome, que se complicó con invagina...
متن کاملSTK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.
A potential tumor suppressor gene, STK11 , encoding a serine threonine kinase, has recently been identified on chromosome 19p13. Germ-line mutations of this gene have been found in patients with Peutz-Jeghers syndrome (PJS). To further investigate the relevance of STK11 mutations in PJS, we analyzed its coding sequence in nine patients and identified two deletions and three missense mutations. ...
متن کاملPeutz-Jeghers syndrome with germline mutation of STK11
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intes...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2006
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.040535