Peutz-Jeghers syndrome with germline mutation of STK11
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منابع مشابه
Peutz-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...
متن کاملA novel germline mutation (c.A527G) in STK11 gene causes Peutz–Jeghers syndrome in a Chinese girl
RATIONALE Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous pigm...
متن کاملSTK11 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 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. ...
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ژورنال
عنوان ژورنال: Annals of Surgical Treatment and Research
سال: 2014
ISSN: 2288-6575,2288-6796
DOI: 10.4174/astr.2014.86.6.325