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Gastrointestinal polyposis

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https://www.readbyqxmd.com/read/27920699/asymptomatic-multiple-lymphomatous-polyposis-identified-during-staging-bidirectional-endoscopy-of-mantle-cell-lymphoma
#1
Sonja P Dawsey, Jason A Gregory, Alexander W Brown, Frances J Jones
Multiple lymphomatous polyposis (MLP) as an extranodal manifestation of mantle cell lymphoma (MCL) in the gastrointestinal tract is rare and not often reported in the literature. We describe the case of a 63-year-old female with asymptomatic MLP found during staging bidirectional endoscopy of MCL. The patient presented only with dyspnea, but was found on physical exam to have diffuse lymphadenopathy, and subsequent positron emission tomography (PET) CT showed extensive lymph node adenopathy consistent with lymphoma...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27910069/lkb1-as-a-tumor-suppressor-in-uterine-cancer-mouse-models-and-translational-studies
#2
Christopher G Peña, Diego H Castrillón
The LKB1 tumor suppressor was identified in 1998 as the gene mutated in the Peutz-Jeghers Syndrome (PJS), a hereditary cancer predisposition characterized by gastrointestinal polyposis and a high incidence of cancers, particularly carcinomas, at a variety of anatomic sites including the gastrointestinal tract, lung, and female reproductive tract. Women with PJS have a high incidence of carcinomas of the uterine corpus (endometrium) and cervix. The LKB1 gene is also somatically mutated in human cancers arising at these sites...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27899913/steroid-responsive-mononeuritis-multiplex-in-the-cronkhite-canada-syndrome
#3
Y L Lo, K H Lim, X M Cheng, S Mesenas
The Cronkhite-Canada syndrome (CCS) is a rare disorder of unknown origin characterized by generalized gastrointestinal polyposis, alopecia, hyperpigmentation, and onychodystrophy. We report a case of CCS with concomitant presentation of mononeuritis multiplex. The electrophysiological findings and steroid responsiveness suggests presence of an autoimmune mechanism.
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27891260/intravenous-vitamin-c-administered-as-adjunctive-therapy-for-recurrent-acute-respiratory-distress-syndrome
#4
Amit Bharara, Catherine Grossman, Daniel Grinnan, Aamer Syed, Bernard Fisher, Christine DeWilde, Ramesh Natarajan, Alpha A Berry Fowler
This case report summarizes the first use of intravenous vitamin C employed as an adjunctive interventional agent in the therapy of recurrent acute respiratory distress syndrome (ARDS). The two episodes of ARDS occurred in a young female patient with Cronkhite-Canada syndrome, a rare, sporadically occurring, noninherited disorder that is characterized by extensive gastrointestinal polyposis and malabsorption. Prior to the episodes of sepsis, the patient was receiving nutrition via chronic hyperalimentation administered through a long-standing central venous catheter...
2016: Case Reports in Critical Care
https://www.readbyqxmd.com/read/27844202/does-routine-colonoscopy-help-diagnose-familial-adenomatous-polyposis-in-patients-presenting-with-desmoid-tumors-but-no-gastrointestinal-symptoms
#5
Rumi Shin, Hwan-Seong Cho, Duck-Woo Kim, So Yeon Ahn, Myong Hoon Ihn, Hyo Jin Park, Heung-Kwon Oh, Sung-Bum Kang
PURPOSE: Desmoid tumor (DT) is a rare myofibroblastic proliferative neoplasm, but can occur in up to 26% of patients with familial adenomatous polyposis (FAP). Therefore, DT may be an extraintestinal manifestation of FAP that precedes the development of advanced malignancies. The aim of this study was to identify the incidence of polyps in DT patients and investigate value of colonoscopy for diagnosis of FAP in DT patients without gastrointestinal symptoms. MATERIALS AND METHODS: The records of patients diagnosed with DT were retrospectively reviewed using the clinical data warehouse (CDW) system...
November 14, 2016: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/27821077/a-case-series-of-intestinal-adenomatous-polyposis-of-unidentified-etiology-a-late-effect-of-irradiation
#6
Lisanne Sara Rigter, Frank G J Kallenberg, Barbara Bastiaansen, Theo A M van Os, Floor E van Leeuwen, Monique Esther van Leerdam, Evelien Dekker
BACKGROUND: In a large number of patients with multiple gastrointestinal adenomatous polyps, no causal germline mutation can be found. Non-genetic factors may contribute to the development of adenomatous polyps in these unexplained polyposis patients. In the development of gastrointestinal cancer, prior exposure to abdominal radiotherapy has been identified as such a factor, as it increases the gastrointestinal cancer risk in cancer survivors. A relationship of radiotherapy with intestinal polyposis, however, has not yet been described...
November 8, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27818810/familial-adenomatous-polyposis-manifesting-as-lactococcus-endocarditis-a-case-report-and-review-of-the-association-of-lactococcus-with-underlying-gastrointestinal-disease
#7
Taylor C Bazemore, Stacey A Maskarinec, Kahli Zietlow, Edward F Hendershot, John R Perfect
A 45-year-old male with a prosthetic aortic valve presented to the hospital with several months of generalized malaise. On admission, he was noted to have anemia of unclear etiology and subsequently became febrile with multiple blood cultures growing Lactococcus garvieae. Inpatient workup was concerning for infectious endocarditis (IE) secondary to Lactococcus. The patient was discharged home with appropriate antimicrobial therapy; however, he was readmitted for persistent, symptomatic anemia and underwent colonoscopy, which revealed innumerable colonic polyps consistent with Familial Adenomatous Polyposis (FAP) that was later confirmed with genetic testing...
2016: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/27768599/a-role-for-the-vitamin-d-pathway-in-non-intestinal-lesions-in-genetic-and-carcinogen-models-of-colorectal-cancer-and-in-familial-adenomatous-polyposis
#8
Yong-Sik Bong, Shahin Assefnia, Therese Tuohy, Deborah W Neklason, Randall W Burt, Jaeil Ahn, Hao-Wen J Jiang, Stephen W Byers
Vitamin D is implicated in the etiology of cancers of the gastrointestinal tract, usually characterized by alteration in the APC/β-catenin/TCF tumor suppressor pathway. The vitamin D receptor (VDR) is also implicated in cardiovascular and skin diseases as well as in immunity. Activated VDR can indirectly alter β-catenin nuclear localization and directly suppress β-catenin/TCF mediated transcriptional activity. We treated VDR null mice with the carcinogen azoxymethane (AOM) and generated mice bearing a mutated APC (hypomorph) on a VDR null background (Apc1638N/+Vdr-/-)...
October 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27716071/effectiveness-of-cyclosporine-as-a-treatment-for-steroid-resistant-cronkhite-canada-syndrome-two-case-reports
#9
Kohei Yamakawa, Takuya Yoshino, Kotaro Watanabe, Koichiro Kawano, Akira Kurita, Naomi Matsuzaki, Yoshiaki Yuba, Shujiro Yazumi
BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare non-inherited disorder, characterized by gastrointestinal polyposis and ectodermal changes. The pathophysiology remains unclear. Treatment with corticosteroids is considered the mainstay treatment because of its high efficacy. However, some patients have steroid-resistant CCS. The therapeutic strategy for steroid-resistant CCS is not yet established. We report two cases with steroid-resistant CCS that were effectively treated with cyclosporine (CyA)...
October 6, 2016: BMC Gastroenterology
https://www.readbyqxmd.com/read/27661969/gastrointestinal-polyposis-in-cowden-syndrome
#10
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...
September 22, 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27648962/aldosterone-producing-adenoma-with-a-somatic-kcnj5-mutation-revealing-apc-dependent-familial-adenomatous-polyposis
#11
Julien Vouillarmet, Fabio Fernandes-Rosa, Julia Graeppi-Dulac, Pierre Lantelme, Myriam Decaussin-Petrucci, Charles Thivolet, Jean-Louis Peix, Sheerazed Boulkroun, Eric Clauser, Maria-Christina Zennaro
CONTEXT: Recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1 and ATP2B3 have been identified in aldosterone producing adenomas (APA). The question as to whether they are responsible for both nodulation and aldosterone production is not solved. CASE DESCRIPTION: We describe the case of a young patient who was diagnosed with severe arterial hypertension due to primary aldosteronism at age 26, followed by hemorrhagic stroke four years later. Abdominal computed tomography showed bilateral macronodular adrenal hyperplasia...
September 20, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27631205/juvenile-polyposis-syndrome-an-unusual-case-report-of-anemia-and-gastrointestinal-bleeding-in-young-infant
#12
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/27624694/carbon-ion-radiotherapy-for-desmoid-tumor-of-the-abdominal-wall-a-case-report
#13
Takuya Nagata, Yusuke Demizu, Tomoyuki Okumura, Shinichi Sekine, Naoki Hashimoto, Nobukazu Fuwa, Tomoaki Okimoto, Yutaka Shimada
BACKGROUND: Desmoid tumors, which are associated with familial adenomatous polyposis (FAP), tend to occur frequently in the abdominal wall and mesentery. Currently, there are no recognized treatments other than surgery, and frequent surgeries result in gastrointestinal obstructions and functional gastrointestinal disorders. CASE PRESENTATION: After surgery that was performed on a 39-year-old patient with FAP, we performed a second tumor excision which was the procedure used for frequently occurring mesenteric desmoid tumors...
2016: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27617147/familial-adenomatous-polyposis
#14
REVIEW
Alexia Waller, Sarah Findeis, Michael J Lee
Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed...
June 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27603362/m%C3%A3-n%C3%A3-trier-disease-manifested-by-polyposis-and-involved-in-both-the-small-bowel-and-entire-colon-a-case-report
#15
Qiang Ding, Panpan Lu, Shuping Ding, Yuhui Fan, Wei Yan, Ying Wang, Dean Tian, Yujia Xia, Mei Liu
INTRODUCTION: Ménétrier disease (MD) is rare that is involved in both the small bowel and entire colon. THE MAIN SYMPTOMS AND THE IMPORTANT CLINICAL FINDINGS: We describe a case of a 76-year-old male patient whose clinical presentations include intermittent diarrhea, epigastric pain, nausea, vomiting, asitia, and weight loss. An endoscopy was performed showing a large number of irregular forms and different sizes of polypoid lesions in the gastrointestinal tract, which is rare for MD...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27579189/a-single-mass-forming-colonic-primary-mantle-cell-lymphoma
#16
Fady Daniel, Hazem I Assi, Walid Karaoui, Jean El Cheikh, Sami Bannoura, Samer Nassif
Mantle cell lymphoma (MCL) is a subtype of non-Hodgkin's lymphoma (NHL) comprising around 7% of adult NHL. It is characterized by a chromosomal translocation t(11:14) and overexpression of Cyclin D1. The incidence of secondary gastrointestinal tract involvement in MCL ranges from 10 to 28% in various series. However primary gastrointestinal MCL is very rare, accounting for only 1 to 4% of primary gastrointestinal lymphomas. The most common endoscopic feature of primary intestinal MCL is multiple lymphomatous polyposis...
2016: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/27573780/syndromic-gastric-polyps-at-the-crossroads-of-genetic-and-environmental-cancer-predisposition
#17
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/27534888/primary-intestinal-lymphangiomatosis-of-the-ileum-in-an-adult-the-role-of-surgical-approach
#18
Mehmet Ilhan, Gizem Oner, Alpay Alibeyoglu, Gülçin Yeğen, Ali Fuat Kaan Gök, Filiz Akyüz, Fuat Bicen
Lymphangioma is a rare benign tumor that occurs due to abnormalities occurring during lymphatic development. It is usually seen in children and young adults. The incidence of lymphangiomas in the gastrointestinal tract is very low. Here we describe the case of 43-year-old woman with lymphangioma of the ileum with infiltrative polyposis-like appearing lesions diagnosed by capsule endoscopy and treated with segmental resection of affected intestinal part with laparotomy. Lesions involving mesentery and ileum were confirmed by pathology...
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27497040/emergency-total-proctocolectomy-in-an-uninsured-patient-with-familial-adenomatous-polyposis-syndrome-and-acute-lower-gastrointestinal-hemorrhage-in-a-community-hospital-a-case-report
#19
Rodolfo J Oviedo, Bruce M Dixon, Chase W Sofiak
INTRODUCTION: Rectal bleeding is the most common symptom of Familial Adenomatous Polyposis (FAP). This case investigates the efficacy of emergency surgery for FAP with total proctocolectomy end ileostomy for recurrent lower gastrointestinal (GI) hemorrhage in an uninsured patient in a 266-bed community hospital. The optimal treatment for FAP with acute lower GI hemorrhage and hemodynamic compromise unresponsive to conservative management is unclear. PRESENTATION OF CASE: A 41-year-old uninsured African American man with no past medical or family history presented to the emergency department with hematochezia lasting three days...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27477802/hamartomatous-polyps-a-clinical-and-molecular-genetic-study
#20
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
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