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Peutz Jeghers syndrome

Chunyan Chen, Xiaomei Zhang, Deqiang Wang, Fangyu Wang, Jian Pan, Zhenkai Wang, Chang Liu, Lin Wu, Heng Lu, Nan Li, Juan Wei, Hui Shi, Haijun Wan, Ming Zhu, Senqing Chen, Yun Zhou, Xin Zhou, Liu Yang, Jiong Liu
BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease. It severely decreases patient quality of life and leads elevated cancer risk. Germline mutation of LKB1 is the leading cause of familial PJS. MATERIAL AND METHODS To characterize the germline mutation of LKB1 gene in Chinese familial and sporadic PJS patients, 14 PJS families, 5 sporadic PJS patients, and 250 healthy adults were collected and genomic DNAs of peripheral blood were extracted. Mutation screenings of LKB1 were performed using MLPA (multiplex ligation-dependent probe amplification), PCR, direct sequencing, and PCR-DHPLC (denaturing high-performance liquid chromatography)...
October 10, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Yi-Shu Wang, Jianfeng Chen, Fengmei Cui, Huibo Wang, Shuai Wang, Wei Hang, Qinghua Zeng, Cheng-Shi Quan, Ying-Xian Zhai, Jian-Wei Wang, Xiang-Feng Shen, Yong-Ping Jian, Rui-Xun Zhao, Kaitlin D Werle, Rutao Cui, Jiyong Liang, Yu-Lin Li, Zhi-Xiang Xu
Liver kinase B1 (LKB1) functions as a tumor suppressor encoded by STK11, a gene that mutated in Peutz-Jeghers syndrome and in sporadic cancers. Previous studies showed that LKB1 participates in IR- and ROS-induced DNA damage response (DDR). However, the impact of LKB1 mutations on targeted cancer therapy remains unknown. Herein, we demonstrated that LKB1 formed DNA damage-induced nuclear foci and co-localized with ataxia telangiectasia mutated kinase (ATM), γ-H2AX, and breast cancer susceptibility 1 (BRCA1)...
September 29, 2016: Oncotarget
J Zhang, R Cheng, J Liang, C Ni, M Li, Z Yao
Pathogenic mutations in genes (SASH1 and PTPN11) can cause a rare genetic disorder associated with pigmentation defects and the well-known LEOPARD syndrome, respectively. Both conditions presented with lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses of three Chinese boys with clinically suspected lentigines-related syndromes. ADAR1, ABCB6, SASH1 and PTPN11 were candidate genes for mutational screening. Sanger sequencing was performed to identify the mutations, whereas bioinformatic analysis was used to predict the pathogenicity of novel missense mutations...
October 2016: Clinical Genetics
Yi-Han Hsiao, Chin-Hung Wei, Szu-Wen Chang, Lung Chang, Yu-Wei Fu, Hung-Chang Lee, Hsuan-Liang Liu, Chun-Yan Yeung
BACKGROUND: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. METHODS: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially...
September 2016: Medicine (Baltimore)
Chetan Devendra Rathi, Dattatray Balasaheb Solanke, Nikita Lalitkumar Kabra, Meghraj Ananda Ingle, Prabha Dilip Sawant
Solitary Peutz Jeghers (SPJ) type hamartomatous polyp is a rare and separate entity from classic Peutz Jeghers syndrome (PJS). A hamartomatous polyp without associated mucocutaneous pigmentations, any other gastrointestinal polyp or a family history of PJS is diagnosed as a SPJ type polyp. We described a case of 22-year-old young man in whom solitary duodenal polyp was incidentally detected and resected. Histopathological examination revealed PJ type hamartomatous polyp with foci of adenomatous and moderate dysplastic change...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
Lodewijk A A Brosens, Francis M Giardiello, G Johan Offerhaus, Elizabeth A Montgomery
Gastric polyps occur in 1-4 % of patients undergoing gastroscopy. Although most are sporadic, some gastric polyps are part of an underlying hereditary syndrome. Gastric polyps can be seen in each of the well-known gastrointestinal polyposis syndromes, but also in Lynch syndrome and in several rare not primarily gastrointestinal syndromes. In addition, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) is a recently described heritable syndrome characterized by isolated gastric polyposis and risk of gastric cancer...
2016: Advances in Experimental Medicine and Biology
Ximena Fajre, María Aspillaga, María McNab, Jorge Navarrete, Verónica Sanhueza, Juana Benedetto
Laugier-Hunziker syndrome is a rare benign idiopathic condition characterized by acquired macular pigmentation of lips and buccal mucosa, often accompanied with melanonychia. The main concern with this condition is to rule out other differential diagnosis with systemic repercussions and similar hyperpigmentation patterns, such as Peutz-Jeghers syndrome, adrenal insufficiency and melanoma. We report a 58-year-old female with a 20-year history of Sjögren’s syndrome, presenting with melanonychia and hyperpigmentation in the buccal mucosa...
May 2016: Revista Médica de Chile
Eun Na Kim, Gu-Hwan Kim, Jiyoon Kim, In Ah Park, Jin Ho Shin, Yun Chai, Kyu-Rae Kim
We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2...
August 22, 2016: Journal of Pathology and Translational Medicine
Q Zeng, J Chen, Y Li, K D Werle, R-X Zhao, C-S Quan, Y-S Wang, Y-X Zhai, J-W Wang, M Youssef, R Cui, J Liang, N Genovese, L T Chow, Y-L Li, Z-X Xu
Liver kinase B1 (LKB1) is mutationally inactivated in Peutz-Jeghers syndrome and in a variety of cancers including human papillomavirus (HPV)-caused cervical cancer. However, the significance of LKB1 mutations in cervical cancer initiation and progress has not been examined. Herein, we demonstrated that, in mouse embryonic fibroblasts, loss of LKB1 and transduction of HPV16 E6/E7 had an additive effect on constraining cell senescence while promoting cell proliferation and increasing glucose consumption, lactate production and ATP generation...
August 22, 2016: Oncogene
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
Miguel Angel Vichido-Luna, Flora Zárate-Mondragón, María Antonieta Mora-Tiscareño, Roberto Cervantes-Bustamante, Jaime Alfonso Ramírez-Mayans
No abstract text is available yet for this article.
July 27, 2016: Gastroenterología y Hepatología
Bixia Zheng, Chunli Wang, Zhanjun Jia, Zhifeng Liu, Mei Li, Yu Jin, Jian Pan
AIM: Peutz-Jeghers syndrome (PJS) is caused by the germline mutations in serine/threonine kinase 11 (STK11) gene. This study was to investigate the spectrum ofSTK11 gene mutations using multiplex ligation-dependent probe amplification (MLPA) assay in combination of direct sequencing in Chinese children with PJS. METHODS: Nine children who met the clinical criteria for PJS and two presumed PJS patients were enrolled in this study. Patients' clinical information on polyp characteristics, polyp-related complications, family histories, etc were reviewed and analyzed...
June 21, 2016: Journal of Pediatric Gastroenterology and Nutrition
Ana Delfina Cano-Contreras, Arturo Meixueiro-Daza, Peter Grube-Pagola, Jose Maria Remes-Troche
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant intestinal polyposis syndrome characterised by the presence of hamartomatous polyps and mucocutaneous pigmentation. Prolapse of the polyps through the anus is an infrequent manifestation in children with PJS, and this complication is extremely rare in adult patients. We report the case of a 30-year-old man recently diagnosed with PJS who was seen at the emergency department because of the abrupt onset of severe anal pain with a foreign body sensation in the anal canal and rectal bleeding...
2016: BMJ Case Reports
W S L De Silva, A A Pathirana, B D Gamage, D S Manawasighe, B Jayasundara, U Kiriwandeniya
BACKGROUND: Duodenal Peutz-Jeghers polyp is a rare cause of duodenal or biliary obstruction. However, a sporadic Peutz-Jeghers polyp leading to simultaneous biliary and duodenal obstruction has not been reported. CASE PRESENTATION: We report a case of a 25-year-old Sri Lankan woman presenting with features of recurrent upper small intestinal obstruction and biliary obstruction. She had clinical as well as biochemical evidence of intermittent biliary obstruction...
2016: Journal of Medical Case Reports
Bertha Idrogo Regalado, Oscar Frisancho Velarde
The Peutz Jeghers Syndrome (PJS) is characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation, are at high risk of bowel resections because ischemia secondary to intussusception. The risk of gastrointestinal cancer is nine more than the general population. We report five patients diagnosed with SPG, four had intestinal intussusception, one upper gastrointestinal bleeding and one died with pancreatic neoplasia.
April 2016: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
Anne Goverde, Susanne E Korsse, Anja Wagner, Monique E van Leerdam, Nanda C Krak, Jaap Stoker, Henk R van Buuren, Robert M W Hofstra, Marco J Bruno, Pieter Dewint, Evelien Dekker, Manon C W Spaander
BACKGROUND AND STUDY AIMS: Small-bowel surveillance with polypectomy of polyps ≥15 mm prevents complications in patients with Peutz-Jeghers syndrome (PJS). We aimed to compare magnetic resonance enteroclysis (MRE) and double balloon enteroscopy (DBE) for diagnostic yield of these polyps and for patient preference. MATERIALS AND METHODS: PJS patients prospectively underwent MRE followed by proximal DBE within 20 weeks. Endoscopists were blinded to the MRE results...
July 11, 2016: Journal of Clinical Gastroenterology
Shintaro Kawasaki, Takao Itoi, Eisuke Iwasaki, Naoki Hosoe, Haruhiko Ogata, Takanori Kanai
A 52-year-old woman presented with relapsing acute pancreatitis. A contrast CT scan revealed polysplenia, agenesis of the dorsal pancreas, preduodenal portal vein, inferior vena cava with persistent continuity of the azygos vein, abnormal lung lobation with bilateral left bronchial morphology, and intestinal malrotation (non-rotation type). To the best of our knowledge, this is the first report in which successful pancreatic duct stent placement for the treatment of recurrent pancreatitis was performed in a polysplenia patient with agenesis of the dorsal pancreas, separate bile and pancreatic ducts and Peutz-Jeghers syndrome...
2016: Internal Medicine
Kuan-Chih Chen, Yun Chen, Tzong-Hsi Lee, Chen-Shuan Chung
No abstract text is available yet for this article.
September 2016: Digestive and Liver Disease
Santosh Shenoy
Adenocarcinoma of small intestines (SBA) is a relatively rare malignancy with poor outcomes due to delayed diagnosis. Fifty percent of patients have metastases on presentation and therefore early detection and treatment offers the best long term outcomes. Certain genetic polyposis syndromes and familial diseases are associated with increased risks for SBA. These include familial adenomatous polyposis (FAP), Lynch syndromes (LS), Juvenile polyposis syndrome, Peutz-Jeghers syndrome, Crohn's disease (CD) and celiac disease...
June 15, 2016: World Journal of Gastrointestinal Oncology
Min-Er Zhong, Bei-Zhan Niu, Wu-Yang Ji, Bin Wu
We report on a patient diagnosed with Peutz-Jeghers syndrome (PJS) with synchronous rectal cancer who was treated with laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA). PJS is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation, and increased risks of gastrointestinal and nongastrointestinal cancer. This report presents a patient with a 20-year history of intermittent bloody stool, mucocutaneous pigmentation and a family history of PJS, which together led to a diagnosis of PJS...
June 14, 2016: World Journal of Gastroenterology: WJG
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