Peutz-Jeghers syndrome (PJS) is an unusual polyposis syndrome that has enjoyed a rich and somewhat confusing history. Mucocutaneous pigmentation and diffuse gastrointestinal hamartomas are the hallmark features
2005 ; An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites . Nat Struct Mol Biol . 12 : 54 - 59Hastings, M.L., Resta, N., Traum, D., Stella, A., Guanti, G., and Krainer, A.R. (2005). An LKB1 AT-AC intron mutation ...
peutz-jeghers. Peutz-Jeghers syndrome noun : a familial polyposis inherited as an autosomal dominant trait and characterized by numerous polyps in the stomach, small intestine, and colon and by melanin-containing spots on the skin and mucous membranes especially of the lips and gums See the full...
Peutz–Jeghers syndrome Heymann WR. J Am Acad Dermatol 2007; 57: 513–4. A synopsis of the syndrome correlating molecular advances with the cutaneous, malignant, and endocrinologic features of the disorder. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome Lim ...
Peutz-Jeghers综合征(Peutz-Jeghers syndrome, PJS)是一种由LKB1/STK11胚系突变引起的、以皮肤黏膜黑斑和胃肠道错构瘤息肉为特征的常染色体显性遗传病[1-3]. 黑斑一般无需特殊治疗; 而胃肠道息肉可继发出血、梗阻、肠套叠、恶变等多种严重并发症, 且具有发病年龄早、诊治困难、病程迁延的特点[4-6]. 对患者及其...
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition. Patients with Peutz-Jeghers syndrome have a 1
Peutz-Jeghers综合征(Peutz-Jeghers syndrome, PJS)以皮肤黏膜色素斑、胃肠道错构瘤息肉和遗传性为临床特征. PJS胃肠道息肉可产生梗阻、出血、套叠、恶变等严重并发症, 目前其临床治疗以手术和内镜治疗为主, 其中双气囊电子小肠镜对于PJS胃肠道息肉的诊断和治疗具有重要的临床意义. 随着转化医学的进步, 分子靶向治疗为...
【Abstract】Peutz-Jeghers syndrome(PJS) is an autosomal dominant inherited disease, which is caused by inactivating germline mutations in LKB1/STK11 and characterized by mucocutaneous pigmentation, multiple gastrointestinal hamartomatous polyps and family history. Life-threatening complications include intestinal...
The individual affected with inherited Peutz-Jeghers syndrome has an autosomal dominant pattern of genetic abnormality. This means, single copy of the distorted gene in every cell is enough to augment the possibility of progressing hamartomas and then they turn to cancerous tumors. ...
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. It is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11). About 1 in 100,000 ind