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Colonic ganglioneuroma

Mohamed Abdelfatah, George Sangah, Glenn Harvin
No abstract text is available yet for this article.
November 26, 2016: Journal of Gastrointestinal Cancer
Santosh Kumar, Shivanshu Singh, Abhishek Chandna
The retroperitoneum is a closed space harbouring vital organs including the great vessels, kidneys and adrenal glands, ureters, and the ascending and descending colon. Surgical management of retroperitoneal pathologies may need multiorgan resection in order to achieve complete surgical resection while preservation of surrounding organs should be attempted, especially in case of benign tumors. We present a case of 15-year-old girl with an 11 × 6 × 5 cm retroperitoneal ganglioneuroma displacing the right kidney, renal vein, and ureter and abutting the IVC which was excised in toto preserving the right kidney and ureter with careful dissection around the great vessels...
2016: Case Reports in Surgery
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
Denys Gibbons, Michael Camilleri, Alfred D Nelson, Deborah Eckert
BACKGROUND: Gastrointestinal symptoms are frequent in multiple endocrine neoplasia (MEN) 2B and may be related to megacolon. OBJECTIVE: The objective of this article is to review the clinical features of patients with MEN 2B, particularly megacolon. METHODS: We used natural language processing of electronic medical records of Mayo Clinic patients over 20 years: Eight patients with definite MEN 2B were identified; of these, four had megacolon...
June 2016: United European Gastroenterology Journal
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
Ihab Shafek Atta, Fahd Nasser AlQahtani
We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively...
2016: Case Reports in Medicine
Joanne Ngeow, Wanfeng Yu, Lamis Yehia, Farshad Niazi, Jinlian Chen, Xuhua Tang, Brandie Heald, Junying Lei, Todd Romigh, Lisa Tucker-Kellogg, Kiat Hon Lim, Haiwei Song, Charis Eng
Hamartomatous polyposis syndromes (HPS) account for a small but appreciable proportion of inherited gastrointestinal cancer predisposition syndromes; patients with HPS have an increased risk for colon and extracolonic malignancies. We present a unique case of familial juvenile polyposis syndrome associated with gastrointestinal ganglioneuromas of unknown etiology. The patient was tested for HPS-associated genes, but no mutation was detected. Exome sequencing identified a germline heterozygous mutation in SMAD9 (SMAD9(V90M))...
October 2015: Gastroenterology
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
Patroula Smpokou, Victor L Fox, Wen-Hann Tan
OBJECTIVE: The aim of this study was to report the earliest age of diagnosis of common clinical findings in children with PTEN hamartoma tumour syndrome (PHTS). DESIGN: Medical records of children with PHTS were reviewed; data included growth measurements, presence or absence of specific clinical manifestations and tumours, and documented ages of diagnosis. SETTING: Children with PHTS evaluated at Boston Children's Hospital from 1996 to 2011...
January 2015: Archives of Disease in Childhood
Peter P Stanich, Robert Pilarski, Jonathan Rock, Wendy L Frankel, Samer El-Dika, Marty M Meyer
AIM: To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN) hamartoma tumor syndrome (PHTS) and to perform a systematic literature review regarding the same. METHODS: This study was approved by the appropriate institutional review board prior to initiation. A clinical genetics database was searched for patients with PHTS or a component syndrome that received gastrointestinal endoscopy or pathology interpretation at our center...
February 21, 2014: World Journal of Gastroenterology: WJG
Inga-Marie Schaefer, Philipp Ströbel, Aung Thiha, Jan Martin Sohns, Christian Mühlfeld, Stefan Küffer, Gunther Felmerer, Adam Stepniewski, Silke Pauli, Abbas Agaimy
Perineurioma is a rare benign peripheral nerve sheath tumor featuring perineurial differentiation. Perineurioma occurs sporadically with only one reported case in the setting of neurofibromatosis type 1 (NF-1). We present a 6.7-cm soft tissue perineurioma of the lower leg in a 51-year-old man with proven NF-1. The tumor displayed whorled and fascicular pattern with infiltrative margins and expressed EMA, GLUT-1, claudin-1, and CD34. Electron microscopy confirmed diagnosis. Furthermore, lipomatosis, cutaneous angiomatous nodules, vasculopathy, and iliac spine lesion consistent with non-ossifying fibroma were observed...
2013: International Journal of Clinical and Experimental Pathology
Abbas Agaimy, Inga-Marie Schaefer, Leopoldina Kotzina, Jürgen Knolle, Irith Baumann, Philipp Ströbel, Michael Vieth
AIMS: Diffuse neurofibromatosis/ganglioneuromatosis, solitary/plexiform neurofibroma, periampullary carcinoids and gastrointestinal stromal tumour (GIST) are the main gastrointestinal manifestations of neurofibromatosis type 1 (NF-1, von Recklinghausen disease). Inflammatory (juvenile-like) polyps have not been recognised to date as specific gastrointestinal (GI) manifestations of NF-1. METHODS AND RESULTS: We describe four males aged 23-65 years with NF-1 and inflammatory (juvenile-like) gastrointestinal polyps, and review the literature for similar cases...
May 2014: Histopathology
Francisco Ferro de Beça, Joanne Lopes, Fernanda Maçoas, Fátima Carneiro, José Manuel Lopes
BACKGROUND: Mesenchymal colorectal polyps are uncommon lesions, particularly those of neurogenic origin. We describe a mucosal Schwann cell hamartoma of the colon with tactoid features, so far reported in peripheral nerve sheath tumours, and address its differential diagnosis and clinical implications. CASE PRESENTATION: A 72-year-old man underwent screening colonoscopy that presented a 5-mm polyp on distal sigmoid. Histologically, it displayed a lesion in the lamina propria comprising oval structures with tactoid features and bland spindle cells, entrapping adjacent crypts...
August 2014: International Journal of Surgical Pathology
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
Anton Novak, Beth Binnington, Bo Ngan, Karen Chadwick, Neil Fleshner, Clifford A Lingwood
Glycosphingolipids (GSLs) are neoplastic and normal/cancer stem cell markers and GSL/cholesterol-containing membrane rafts are increased in cancer cell plasma membranes. We define a novel means by which cancer cells can restrict tumor-associated GSL immunoreactivity. The GSL-cholesterol complex reorients GSL carbohydrate to a membrane parallel, rather than perpendicular conformation, largely unavailable for antibody recognition. Methyl-β-cyclodextrin cholesterol extraction of all primary human tumor frozen sections tested (ovarian, testicular, neuroblastoma, prostate, breast, colon, pheochromocytoma and ganglioneuroma), unmasked previously "invisible" membrane GSLs for immunodetection...
November 2013: Glycobiology
A Aslam, I H Coulson
No abstract text is available yet for this article.
December 2013: Clinical and Experimental Dermatology
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
Mika A B Matthews, Brent H Adler, Michael A Arnold, Soma Kumar, Ryan Carvalho, Gail E Besner
A 7 year old male with a history of congenital neutropenia and growth hormone deficiency presented with abdominal pain, fevers, and diarrhea. Imaging and endoscopy revealed significant inflammation of the ascending colon with stenosis at the level of the hepatic flexure. A right hemicolectomy was performed, and pathologic findings were consistent with diffuse intestinal ganglioneuromatosis. Due to recurrent mass effect at the intestinal anastomotic site detected radiologically, a second intestinal resection was performed 7 months later...
May 2013: Journal of Pediatric Surgery
Amer A Alkhatib, Chaney Tamara
No abstract text is available yet for this article.
May 2013: Journal of the American Osteopathic Association
Joanne Ngeow, Brandie Heald, Lisa A Rybicki, Mohammed S Orloff, Jin Lian Chen, Xiuli Liu, Lisa Yerian, Joseph Willis, Heli J Lehtonen, Rainer Lehtonen, Jessica L Mester, Jessica Moline, Carol A Burke, James Church, Lauri A Aaltonen, Charis Eng
BACKGROUND & AIMS: Gastrointestinal polyposis is a common clinical problem, yet there is no consensus on how to best manage patients with moderate-load polyposis. Identifying genetic features of this disorder could improve management and especially surveillance of these patients. We sought to determine the prevalence of hamartomatous polyposis-associated mutations in the susceptibility genes PTEN, BMPR1A, SMAD4, ENG, and STK11 in individuals with ≥5 gastrointestinal polyps, including at least 1 hamartomatous or hyperplastic/serrated polyp...
June 2013: Gastroenterology
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