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Juvenile polyposis

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https://www.readbyqxmd.com/read/29745898/somatic-clones-heterozygous-for-recessive-disease-alleles-of-bmpr1a-exhibit-unexpected-phenotypes-in-drosophila
#1
Takuya Akiyama, Sırma D User, Matthew C Gibson
The majority of mutations studied in animal models are designated as recessive based on the absence of visible phenotypes in germline heterozygotes. Accordingly, genetic studies primarily rely on homozygous loss-of-function to determine gene requirements, and a conceptually-related 'two-hit model' remains the central paradigm in cancer genetics. Here we investigate pathogenesis due to somatic mutation in epithelial tissues, a process that predominantly generates heterozygous cell clones. To study somatic mutation in Drosophila , we generated inducible alleles that mimic human Juvenile polyposis-associated BMPR1A mutations...
May 10, 2018: ELife
https://www.readbyqxmd.com/read/29720405/-smad4-dpc4
#2
REVIEW
Aoife J McCarthy, Runjan Chetty
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor beta (TGF-β) signaling via several pathways. The gene acts as a tumour suppressor gene and inactivation of smad4/DPC4 is best recognised in pancreatic cancer. However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29714463/a-survey-on-rectal-bleeding-in-children-a-report-from-iran
#3
Seyed Mohsen Dehghani, Iraj Shahramian, Maryam Ataollahi, Ali Bazı, Nosaibe Seirfar, Mojtaba Delaramnasab, Alireza Sargazi, Mahsa Shariatrazavi
Background/aim: Studies on the epidemiology of rectal bleeding in children are limited in Iran. Our aim was to assess etiologies of rectal bleeding in children in Iran. Materials and methods: We enrolled 730 children with rectal bleeding. All the patients underwent colonoscopy, and 457 were further evaluated with histopathology. Results: According to colonoscopy and histopathology, respectively, inflammatory bowel disease (IBD) (29.4%, 15.8%), nodular hyperplasia (NH) (24.9%, 10%), and juvenile polyposis (JP) (12...
April 30, 2018: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29707409/juvenile-idiopathic-arthritis-associated-with-combined-jp-hht-syndrome-a-novel-phenotype-associated-with-a-novel-variant-in-smad4
#4
Juliet Chhay Bishop, Jacquelyn Francis Britton, Anne M Murphy, Sangeeta Sule, Sally Mitchell, Clifford Takemoto, Joseph M Collaco, Wikrom Karnsakul, Carmelo Cuffari, Edith Dietz, Joann Bodurtha
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP-HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the SMAD4 gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic disease marked by arthritis and systemic inflammation for which the cause remains unknown...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29510583/integration-of-lncrna-and-mrna-transcriptome-analyses-reveals-genes-and-pathways-potentially-involved-in-calf-intestinal-growth-and-development-during-the-early-weeks-of-life
#5
Eveline M Ibeagha-Awemu, Duy N Do, Pier-Luc Dudemaine, Bridget E Fomenky, Nathalie Bissonnette
A better understanding of the factors that regulate growth and immune response of the gastrointestinal tract (GIT) of calves will promote informed management practices in calf rearing. This study aimed to explore genomics (messenger RNA (mRNA)) and epigenomics (long non-coding RNA (lncRNA)) mechanisms regulating the development of the rumen and ileum in calves. Thirty-two calves (≈5-days-old) were reared for 96 days following standard procedures. Sixteen calves were humanely euthanized on experiment day 33 (D33) (pre-weaning) and another 16 on D96 (post-weaning) for collection of ileum and rumen tissues...
March 5, 2018: Genes
https://www.readbyqxmd.com/read/29492914/-updates-and-interpretation-on-nccn-clinical-practice-guidelines-for-gastric-cancer-2017-version-5
#6
Haibo Qiu, Zhiwei Zhou
The National Comprehensive Cancer Network (NCCN) issued the clinical practice guidelines for gastric cancer 2017 edition version 5, which has been fully updated for the treatment of gastric cancer, including systematic treatment, surgery and radiotherapy. This article review and summarize the updated NCCN clinical practice guidelines for gastric cancer in 2017 and try to interpret it. (1)Biomarkers: mismatch repair defect (dMMR) or high microsatellite instability (MSI-H), programmed death ligand 1 (PD-L1) and tumor Epstein Barr virus (EBV) status should be considered for patients with gastric cancer...
February 25, 2018: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29470256/systematic-screening-in-hereditary-hemorrhagic-telangiectasia-a-review
#7
Steven Kroon, Repke J Snijder, Marie E Faughnan, Hans-Jurgen Mager
PURPOSE OF REVIEW: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by telangiectasia and arteriovenous malformations (AVMs). To date, five genetic types of HHT and one combined juvenile polyposis syndrome and HHT are known. Clinical and genetic screening of patients suspected with HHT is recommended to confirm the diagnosis and to prevent complications associated with HHT. The aim of this article is to give an overview of the evidence and to formulate a recommendation for clinicians concerning screening for HHT...
May 2018: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29459588/magnetic-resonance-imaging-in-evaluation-of-sinonasal-masses-with-histopathological-correlation
#8
M S Begum, U K Sarker, M A Islam, M A Sangma, P Paul, M A Rahman
Sinonasal mass is the abnormal growth of tissue from nasal cavity and mucosa of the paranasal sinuses. The growth may be benign or malignant. The benign lesion grows slowly and does not metastasize. The malignant lesion grows rapidly and metastasizes early. The aim of this study is to evaluate and diagnose the various types of sinonasal masses with MRI and its correlation with histopathological findings. This cross sectional descriptive study was carried out for a period of 02 years, from July 2015 to June 2017...
January 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29397239/hereditary-gastrointestinal-carcinomas-and-their-precursors-an-algorithm-for-genetic-testing
#9
REVIEW
Clothaire P E Spoto, Irene Gullo, Fatima Carneiro, Elizabeth A Montgomery, Lodewijk A A Brosens
Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome)...
May 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29169633/pathology-and-genetics-of-hereditary-colorectal-cancer
#10
REVIEW
Huiying Ma, Lodewijk A A Brosens, G Johan A Offerhaus, Francis M Giardiello, Wendy W J de Leng, Elizabeth A Montgomery
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions...
January 2018: Pathology
https://www.readbyqxmd.com/read/29168369/polyposis-deserves-a-perfect-physical-examination-for-final-diagnosis-bannayan-riley-ruvalcaba-syndrome
#11
Hayriye Hızarcıoğlu-Gülşen, Esra Kılıç, Elena Dominguez-Garrido, Yusuf Aydemir, Gülen Eda Utine, İnci Nur Saltık-Temizel
Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29043385/whole-gland-prostate-cancer-cryoablation-with-magnetic-resonance-imaging-guidance-one-year-follow-up
#12
Kristin A Kinsman, Mariah L White, Lance A Mynderse, Akira Kawashima, Karen Rampton, Krzysztof R Gorny, Thomas D Atwell, Joel P Felmlee, Matthew R Callstrom, David A Woodrum
PURPOSE: Patients who develop prostate cancer after prior abdominal perineal resection are poor surgical candidates, and have limited treatment options. Therefore, our goal is to present results from a single institutional experience of four patients who underwent whole gland MRI-guided cryoablation with a history complicated by prior abdominoperineal resection. MATERIALS AND METHODS: Four MRI-guided cryoablative treatments (mean age 64, range 59-69 years) for primary and locally recurrent prostate adenocarcinoma were retrospectively reviewed in patients with prior abdominal perineal resection for colorectal cancer (3) and juvenile polyposis (1)...
February 2018: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#13
Christophe Rosty
Polyps of the gastrointestinal tract are very common lesions and most frequently sporadic in nature. Some polyp subtypes are associated with rare hereditary polyposis syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. However, many sporadic benign lesions of the gastrointestinal tract can mimic some of these syndromic hamartomatous polyps. The role of the surgical pathologist is to raise the possibility of a hereditary condition in case of suggestive polyp histology and to look for clinical information to support the suspected diagnosis...
January 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28842049/management-of-small-bowel-polyps-a-literature-review
#14
REVIEW
Rabia A de Latour, Saikiran M Kilaru, Seth A Gross
Despite the small bowel comprising 90% of the mucosal surface area of the gastrointestinal tract, it is a rare site for neoplasia and only accounts for a little over 3% of the tumors that arise in the digestive tract. Benign small bowel lesions include lipomas, lymphangiomas, leiomyomas, neurofibromas, nodular lymphoid hyperplasia and adenomas, many of which are precursors to malignant lesions. Several polyposis syndromes are associated with small bowel polyps as well, including familial adenomatous polyposis syndrome, lynch syndrome, Peutz-Jeghers syndrome, Cowden syndrome and juvenile polyposis syndrome...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28842047/evaluation-and-management-of-gastric-epithelial-polyps
#15
REVIEW
R Castro, P Pimentel-Nunes, M Dinis-Ribeiro
Gastric polyps include a wide spectrum of lesions with different histology and neoplastic potential. They are found in up to 6% of upper gastrointestinal endoscopy and are usually asymptomatic and incidentally diagnosed, being in the vast majority epithelial gastric polyps. Hyperplastic, fundic gland and adenomas are the most common types of gastric polyps and, although each type may have typical endoscopic appearances, they all must be sampled at the initial endoscopy for histological assessment. Also, the normal appearing gastric mucosa should be sampled to stage atrophic changes, rule out endoscopically non-visible dysplasia and to diagnose Helicobacter pylori...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28674119/cancer-screening-recommendations-and-clinical-management-of-inherited-gastrointestinal-cancer-syndromes-in-childhood
#16
REVIEW
Maria Isabel Achatz, Christopher C Porter, Laurence Brugières, Harriet Druker, Thierry Frebourg, William D Foulkes, Christian P Kratz, Roland P Kuiper, Jordan R Hansford, Hector Salvador Hernandez, Katherine L Nathanson, Wendy K Kohlmann, Leslie Doros, Kenan Onel, Kami Wolfe Schneider, Sarah R Scollon, Uri Tabori, Gail E Tomlinson, D Gareth R Evans, Sharon E Plon
Hereditary gastrointestinal cancer predisposition syndromes have been well characterized, but management strategies and surveillance remain a major challenge, especially in childhood. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of children with cancer predisposition syndromes. In this article, we review the current literature in polyposis syndromes that can be diagnosed in childhood and may be associated with an increased incidence of gastrointestinal neoplasms and other cancer types...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28600700/co-occurrence-of-lynch-syndrome-and-juvenile-polyposis-syndrome-confirmed-by-multigene-panel-testing
#17
Rachel Silva-Smith, Daniel A Sussman
Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first report of an individual having these two hereditary colorectal cancer syndromes. This discovery highlights the benefit of multigene testing over traditional stepwise genetic testing, particularly when a clinical presentation suggests more than one underlying genetic cause...
January 2018: Familial Cancer
https://www.readbyqxmd.com/read/28550623/malignant-tumors-associated-with-juvenile-polyposis-syndrome-in-japan
#18
REVIEW
Hideyuki Ishida, Keiichiro Ishibashi, Takeo Iwama
PURPOSE: The risk of malignant tumors developing in association with juvenile polyposis syndrome (JPS) was evaluated to explore the optimal treatment for this rare disease. METHODS: We reviewed the data on JPS cases reported in Japan between January, 1971 and March, 2016. RESULTS: A total of 171 cases were evaluable. Of these 171 patients, 83 (48.5%) were female and the median age at diagnosis was 28 years (range 1-80 years). The polyps were located in the stomach alone (n = 62; 36...
March 2018: Surgery Today
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#19
REVIEW
C Langner
Most cases of gastric and pancreatic cancer are sporadic, but familial clustering can be observed in approximately 10% of cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and two syndromes have been characterized: hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Gastric and pancreatic cancer can develop in the setting of other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, Lynch syndrome, familial adenomatous polyposis (FAP), or various hamartomatous polyposis syndromes, including juvenile polyposis and Peutz-Jeghers syndrome...
May 2017: Der Pathologe
https://www.readbyqxmd.com/read/28474162/-hereditary-colorectal-cancer-an-update-on-genetics-and-entities-in-terms-of-differential-diagnosis
#20
REVIEW
T T Rau, H Dawson, A Hartmann, J Rüschoff
The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations...
May 2017: Der Pathologe
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