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Ganglioneuromatous polyposis

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https://www.readbyqxmd.com/read/27661969/gastrointestinal-polyposis-in-cowden-syndrome
#1
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/27168869/an-unusual-case-of-cowden-syndrome-associated-with-ganglioneuromatous-polyposis
#2
Steffen Pistorius, Barbara Klink, Jessica Pablik, Andreas Rump, Daniela Aust, Marlene Garzarolli, Evelin Schröck, Hans K Schackert
BACKGROUND: Ganglioneuromatous polyposis (GP) is a very rare disorder which may be associated with other clinical manifestations and syndromes, such as Cowden syndrome, multiple endocrine neoplasia (MEN) type II and neurofibromatosis (NF) 1. The risk for malignant transformation of ganglioneuromas is unknown, and the combination of GP with colon cancer has been only very seldom reported. METHODS AND RESULTS: We report the case of a 60-year old male patient with adenocarcinoma, adenomas and lipomas of the colon and multiple gastroduodenal lesions combined with generalised lipomatosis and macrocephaly...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26075113/solitary-colonic-ganglioneuroma-a-rare-incidental-finding-of-hematochezia
#3
George Abraham, Sateesh R Prakash
Ganglioneuromas (GNs) are hamartomatous tumors derived from the autonomic nervous system. It is rare to encounter GN in the gastrointestinal tract. Patients with these tumors usually present with abdominal pain, constipation, ileus, weight loss, or even bleeding. GNs are categorized into three different morphological subtypes, namely, polypoid GN, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of hematochezia from GN in a colon polyp discovered on diagnostic colonoscopy. Due to a lack of guidelines, we reviewed the literature to discuss treatment and other associated conditions for GN...
2015: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/24927799/a-case-of-recurrent-intestinal-ganglioneuromatous-polyposis-accompanied-with-mesenteric-schwannoma
#4
LETTER
Qi-Ming Wang, Dan Jiang, Hong-Ze Zeng, Yi Mou, Hang Yi, Wei Liu, Qi-Shan Zeng, Chun-Cheng Wu, Cheng-Wei Tang, Bing Hu
No abstract text is available yet for this article.
December 2014: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/23958108/solitary-ganglioneuromatosis-of-the-descending-colon-presenting-as-giant-retroperitoneal-tumour
#5
In Mateş, C Iosif, D Dinu, S Constantinoiu
Ganglioneuroma (GN) is a benign neoplasia of the autonomous nervous system, colonic GN is uncommon in adults. There are three subgroups: polypoid GN, ganglioneuromatous polyposis and diffuse ganglioneuromatosis. Ganglioneuromatosis is highly-associated to neurofibromatosis type 1 (NF1) and multiple endocrine neoplasia type 2b (MEN2B). A 68-year-old female, with a discrete retarded emission of stools, was admitted for a large tumor in the left flank; CT scan, urography and barium enema demonstrated a large retroperitoneal mass, presumed as sarcoma...
July 2013: Chirurgia
https://www.readbyqxmd.com/read/23864455/ganglioneuromatous-polyposis-of-the-colon-in-a-patient-with-multiple-adenomatous-polyps
#6
REVIEW
Müyesser Sayki Arslan, Fuat Ekız, Güldal Yilmaz, Şahin Çoban, Berna Savaş, Arzu Ensarı, Necati Örmecı
Ganglioneuroma of the gastrointestinal tract is an extremely rare neuroectodermal tumor that can be located in the colon. In clinical practice, it is usually associated with a systemic disease. Herein, we report a case presented with intermittent rectal bleeding and finally diagnosed with ganglioneuromatous polyposis and multiple adenomatous polyps in the colon. We also discuss the patients reported in the pertinent literature.
2012: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/23512313/intestinal-ganglioneuromatosis-unusual-presentation-of-cowden-syndrome-resulting-in-delayed-diagnosis
#7
Anna Vinitsky, Christina A Zaleski, Sayed M Sajjad, Elizabeth W McPherson
We report on a 25-year-old woman who presented as a teenager with macrocephaly and multiple gastrointestinal lesions including ganglioneuromas, hamartomas, lipomas, juvenile, and hyperplastic polyps in association with extra-intestinal tumors including a retroperitoneal lipoma, storiform collagenoma, and a fibrolipomatous hamartoma. PTEN mutation analysis identified a deletion in exon 2, confirming the diagnosis of Cowden syndrome. While intestinal polyps are common among Cowden patients who undergo endoscopy, and intestinal ganglioneuromas are occasionally reported, they are not usual presenting manifestations...
May 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/22018627/colonic-ganglioneuromatous-polyposis-and-metastatic-adenocarcinoma-in-the-setting-of-cowden-syndrome-a-case-report-and-literature-review
#8
REVIEW
Joshua W Trufant, Laura Greene, Deborah L Cook, Wendy McKinnon, Marc Greenblatt, Marcus W Bosenberg
Cowden syndrome is a rare, autosomal-dominant, multisystem disorder characterized by hamartomatous tissue overgrowth and an increased risk of breast, thyroid, and endometrial cancers. Most of the cases arise from germline mutations of the phosphatase and tensin homologue tumor suppressor gene. An association with colon cancer remains unproven but has been suggested in previous reports. We present the case of a 42-year-old man with colonic ganglioneuromatous polyps and an adjacent colonic adenoma giving rise to a signet-ring adenocarcinoma with lymph node metastases in the setting of Cowden syndrome...
April 2012: Human Pathology
https://www.readbyqxmd.com/read/21628613/colonic-polyposis-and-neoplasia-in-cowden-syndrome
#9
Peter P Stanich, Victoria L Owens, Seth Sweetser, Sherezade Khambatta, Thomas C Smyrk, Ronald L Richardson, Matthew P Goetz, Mrinal M Patnaik
OBJECTIVE: To identify and describe the frequency, histologic features, and clinical outcome of colon polyposis and neoplasia in Cowden syndrome--a rare familial hamartoma tumor syndrome associated with mutations in the PTEN gene. PATIENTS AND METHODS: Patients with a clinical diagnosis of PTEN hamartoma tumor syndrome-Cowden phenotype were retrospectively identified and studied. Only those who underwent colonoscopy or colon pathologic interpretation were included in the final analysis...
June 2011: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/17090203/hamartomatous-polyps-of-the-colon-ganglioneuromatous-stromal-and-lipomatous
#10
REVIEW
Owen T M Chan, Parviz Haghighi
Intestinal ganglioneuromas comprise benign, hamartomatous polyps characterized by an overgrowth of nerve ganglion cells, nerve fibers, and supporting cells in the gastrointestinal tract. This polyposis has been divided into 3 subgroups, each with a different degree of ganglioneuroma formation: polypoid ganglioneuroma, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. The ganglioneuromatous polyposis subgroup is not known to coexist with systemic disorders that often have an associated intestinal polyposis, such as multiple endocrine neoplasia type IIb, neurofibromatosis type I, and Cowden syndrome...
October 2006: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/15810633/ganglioneuromatous-polyposis-associated-with-juvenile-polyps-and-a-tubular-adenoma
#11
Shazia Rafiq, Hussein Hameer, Michael D Sitrin
No abstract text is available yet for this article.
March 2005: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/15220831/-diffuse-colonic-ganglioneuromatous-polyposis
#12
Sophie Michalak, Anne Croué, Isabelle Valo, Nina Dib, Jean Boyer
Ganglioneuromatous polyposis is a very rare intestinal disease which differs from isolated polypoid ganglioneuroma and from diffuse ganglioneuromatosis. Its clinical, endoscopic, microscopic and evolutive features are poorly known. We report three cases of colonic ganglioneuromatous polyposis that illustrated an uncommon diffusion pattern in two men and one woman aged 63-72 who presented with chronic diarrhea. Endoscopic features suggesting the diagnosis were diffuse polyposis predominating in the cecum and right colon, with hyperhemic flat lesions enhanced after indigocarmin instillation...
April 2004: Annales de Pathologie
https://www.readbyqxmd.com/read/11330589/ganglioneuromatous-polyposis-a-premalignant-condition-report-of-a-case-and-review-of-the-literature
#13
REVIEW
A S Kanter, N H Hyman, S C Li
A 40-year-old man with ganglioneuromatous polyposis and an aggressive coexisting colorectal cancer is described. Contrary to previous reports, we believe that ganglioneuromatous polyposis should be considered a premalignant condition.
April 2001: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/10321764/ganglioneuromatous-polyposis-of-the-colon-associated-with-adenocarcinoma-and-primary-hyperparathyroidism
#14
R Macenlle, J Fernández-Seara, M Pato, J Pereira, P Pascual, M Montero, C Miranda
A rare case of ganglioneuromatous polyposis of the colon found in association with mucinous adenocarcinoma and primary hyperparathyroidism caused by a parathyroid adenoma in a 77-year-old woman is described. We discuss the clinical implications of this finding and review the literature.
April 1999: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/7906923/ganglioneuromas-of-the-gastrointestinal-tract-relation-to-von-recklinghausen-disease-and-other-multiple-tumor-syndromes
#15
K M Shekitka, L H Sobin
We studied 43 patients with ganglioneuromas of the gastrointestinal tract accessioned at the Armed Forces Institute of Pathology (AFIP) from 1940 to 1990 in order to determine their relation to von Recklinghausen's disease and other multiple tumor syndromes. They fell into three groups: polypoid ganglioneuroma (28 patients); ganglioneuromatous polyposis (7 patients); and diffuse ganglioneuromatosis (8 patients). Follow-up (1-24 years, average 8 years) for 16 of 28 patients with polypoid ganglioneuroma showed that none of these patients developed von Recklinghausen's disease or evidence or multiple tumor syndromes...
March 1994: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/6742313/familial-ganglioneuromatous-polyposis-of-the-large-bowel-report-of-a-family-with-associated-juvenile-polyposis
#16
G Mendelsohn, M P Diamond
The unique familial occurrence of polypoid intestinal ganglioneuromatosis of the large bowel is reported. The lesions affected a 38-year-old father and three children aged 14, 12, and 10 years. In these cases, extensive diffuse and polypoid proliferation of nerve fibers and ganglion cells within the colonic mucosa was associated with pronounced epithelial changes resembling juvenile polyposis. None of the patients had any clinical evidence of the mucosal neuroma syndrome or Von Recklinghausen's neurofibromatosis, conditions in which intestinal ganglioneuromatosis can occur...
July 1984: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/2910234/ganglioneuromatous-proliferation-associated-with-juvenile-polyposis-coli
#17
B N Pham, R P Villanueva
A case of nonfamilial juvenile polyposis coli was associated ganglioneuromatous proliferation in the polyps is described. The ganglioneuromatous proliferation was characterized by clusters of mature ganglion cells and nerve fiber bundles in the lamina propria and submucosa of the juvenile polyps. The patient had no history of von Recklinghausen's disease or multiple endocrine neoplasia syndrome, type 2b. The implications of this peculiar finding are discussed and the literature is reviewed.
January 1989: Archives of Pathology & Laboratory Medicine
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