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Juvenile polyposis

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https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#1
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...
September 8, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28842049/management-of-small-bowel-polyps-a-literature-review
#2
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
#3
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
#4
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
#5
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...
June 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28550623/malignant-tumors-associated-with-juvenile-polyposis-syndrome-in-japan
#6
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...
May 26, 2017: Surgery Today
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#7
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 8, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28474162/-hereditary-colorectal-cancer-an-update-on-genetics-and-entities-in-terms-of-differential-diagnosis
#8
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
https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#9
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28428902/nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#10
Amna Ahmed, Badr Alsaleem
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28340255/massive-gastric-juvenile-polyposis-a-clinicopathologic-study-using-smad4-immunohistochemistry
#11
Margaret E Lawless, Daniel L Toweill, Kim D Jewell, Dhanpat Jain, Laura Lamps, Alyssa M Krasinskas, Paul E Swanson, Melissa P Upton, Matthew M Yeh
Objectives: Juvenile polyps involving the stomach are uncommon. Massive gastric juvenile polyposis is even rarer. Methods: We describe the clinicopathologic features of nine cases of massive gastric juvenile polyposis. Results: All patients had anemia; four had hypoalbuminemia. The polyps were composed predominantly of dilated crypts lined by columnar epithelium and abundant edematous stroma with mixed inflammatory infiltrates. One patient had a poorly differentiated adenocarcinoma, arising in juvenile polyp-associated intraepithelial neoplasia...
April 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28131865/juvenile-polyposis-and-hereditary-hemorrhagic-telangiectasia-overlap-syndrome
#12
Guilherme Piovezani Ramos, Korosh Sharain, Karthik Ravi
No abstract text is available yet for this article.
January 25, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/27991685/massive-gastric-juvenile-type-polyposis-a-clinicopathological-analysis-of-22-cases
#13
Raul S Gonzalez, Volkan Adsay, Rondell P Graham, Stuti G Shroff, Michael M Feely, Michael G Drage, David N Lewin, Eric A Swanson, Rhonda K Yantiss, Pelin Bağci, Alyssa M Krasinskas
AIMS: Massive gastric polyposis is a rare entity that is often associated with juvenile polyposis syndrome (JPS). The aim of this study was to evaluate the clinicopathological features of 22 patients with abundant gastric juvenile-type or hyperplastic-like polyps. METHODS AND RESULTS: The study included 12 males and 10 females with a median age of 48 years (range: 13-79 years). Fourteen (64%) patients carried a diagnosis of JPS, and three had prior gastrointestinal adenocarcinomas...
May 2017: Histopathology
https://www.readbyqxmd.com/read/27661969/gastrointestinal-polyposis-in-cowden-syndrome
#14
Ruthy Shaco-Levy, Kory W Jasperson, Katie Martin, N J Samadder, Randall W Burt, Jian Ying, Mary P Bronner
GOALS: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome. BACKGROUND: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. STUDY: Cowden patients with gastrointestinal polyps were selected for medical record and pathologic slide review...
August 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27644675/accuracy-of-fdg-pet-ct-for-detection-of-incidental-pre-malignant-and-malignant-colonic-lesions-correlation-with-colonoscopic-and-histopathologic-findings
#15
Anchisa Kunawudhi, Alexandra K Wong, Tarik K Alkasab, Umar Mahmood
PURPOSE: We evaluated all PET/CTs acquired for patients without a primary diagnosis of colorectal cancer, and compared results for those who had subsequent colonoscopy within 6 months, to assess the accuracy of FDG PET/CT for detection of incidental pre-malignant polyps and malignant colon cancers. MATERIALS AND METHODS: Medical records of 9,545 patients who underwent F-18 FDG PET/CT studies over 3.5 years were retrospectively reviewed. Due to pre-existing diagnosis of colorectal cancer, 818 patients were excluded...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27631205/juvenile-polyposis-syndrome-an-unusual-case-report-of-anemia-and-gastrointestinal-bleeding-in-young-infant
#16
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)
https://www.readbyqxmd.com/read/27573780/syndromic-gastric-polyps-at-the-crossroads-of-genetic-and-environmental-cancer-predisposition
#17
REVIEW
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
https://www.readbyqxmd.com/read/27477802/hamartomatous-polyps-a-clinical-and-molecular-genetic-study
#18
REVIEW
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
https://www.readbyqxmd.com/read/27384093/juvenile-polyps-in-denmark-from-1995-to-2014
#19
Anne Marie Jelsig, Lilian Bomme Ousager, Klaus Brusgaard, Niels Qvist
BACKGROUND: Juvenile polyps in the large bowel are rare but the most common type of polyp in children. The prevalence and incidence are unknown, and few studies exist on the occurrence in adults. They are considered not to harbor any malignant potential unless they are part of the hereditary juvenile polyposis syndrome. OBJECTIVE: We aimed to study the demographics of juvenile polyps in Denmark in a 20-year period from 1995 to 2015 in both adults and children. This is the first report on the occurrence, anatomic localization, and reoccurrence of these polyps in a whole population...
August 2016: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/27375208/a-smad4-mutation-indicative-of-juvenile-polyposis-syndrome-in-a-family-previously-diagnosed-with-menetrier-s-disease
#20
James K Burmester, Lauren N Bell, Deanna Cross, Patrick Meyer, Steven H Yale
BACKGROUND: Menetrier's disease (MD) is a rare disease with unknown aetiology, characterized by hypertrophic folds within the fundus and body of the stomach. AIMS: We investigated mutations of the candidate genes SMAD4, BMPR1A, TGF-α, and PDX1 within a family with MD. METHODS: A large 4-generation family with MD was identified. This family had 5 cases of MD, 1 case of MD and juvenile polyposis syndrome (JPS) and 3 cases of JPS. Participants provided saliva for DNA extraction and completed a health questionnaire designed to assess conditions that may be found in patients with MD...
October 2016: Digestive and Liver Disease
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