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Li Y, Beizai P, Russell JW, Westbrook L, Nowain A, Wang HL. Mucosal Schwann cell hamartoma of the gastroesophageal junction: A series of 6 cases and comparison with colorectal counterpart. Ann Diagn Pathol 2020; 47:151531. [PMID: 32460039 DOI: 10.1016/j.anndiagpath.2020.151531] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/01/2020] [Revised: 04/22/2020] [Accepted: 04/23/2020] [Indexed: 02/08/2023]
Abstract
Mucosal Schwann cell hamartoma (MSCH) is an uncommon neural lesion characterized by an ill-defined proliferation of S100-positive Schwann cells in the lamina propria, with reported cases exclusively occurring in the colorectum. Here we describe the first series of MSCHs arising in the gastroesophageal junction (GEJ) and discuss their clinicopathologic features in comparison with their colorectal counterparts. We searched the UCLA pathology database from 01/2014 to 12/2018 to identify cases carrying the diagnosis of MSCH. A total of 48 cases (45 in-house, 3 consults) of colorectal MSCHs and 6 cases (1 in-house, 5 consults) of GEJ MSCHs were identified. For GEJ MSCHs, there were 4 males and 2 females with an average age of 70.2 years (range: 57-76 years). Clinical indications for endoscopy included history of gastroesophageal reflux disease (n = 2), heartburn (n = 2), dysphagia (n = 1), and iron deficiency anemia (n = 1). Endoscopic findings at the GEJ were available for 5 patients including irregular Z-line (n = 3), mild nodular carditis (n = 1), and normal (n = 1). None of them showed a polyp or nodule. The mean size of the lesion was 2.8 mm (range: 2-4 mm) microscopically. None of the colorectal or GEJ MSCH cases had an association with inherited syndromes. In conclusion, MSCH of the gastrointestinal tract is predominantly seen in the colorectum, but also infrequently seen in the GEJ. GEJ MSCH shares histologic and immunohistochemical features with its colorectal counterpart, but is usually an incidental finding with no endoscopically visible lesion. As there is no syndromic association with MSCH, additional treatment, work-up and follow-up are unnecessary.
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Affiliation(s)
- Yuan Li
- Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States; Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China
| | - Pouneh Beizai
- Pathfinder Labs LLC, Los Angeles, CA 90064, United States
| | - John W Russell
- Pathfinder Labs LLC, Los Angeles, CA 90064, United States
| | - Lindsey Westbrook
- Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States
| | - Arash Nowain
- Gastroenterology & Hepatology, Diagnostic and Therapeutic Endoscopy, Center for GI Health, Beverly Hills, CA 90212, United States
| | - Hanlin L Wang
- Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States.
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2
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Ahn S, Chung CS, Kim KM. Neurofibroma of the Colon: A Diagnostic Mimicker of Gastrointestinal Stromal Tumor. Case Rep Gastroenterol 2016; 10:674-678. [PMID: 27920660 PMCID: PMC5126605 DOI: 10.1159/000452202] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/12/2016] [Accepted: 10/03/2016] [Indexed: 12/16/2022] Open
Abstract
Gastrointestinal neurofibroma usually develops as diffuse gastrointestinal involvement in neurofibromatosis type 1 patients. Only 4 cases of sporadic colonic neurofibroma in a patient without neurofibromatosis type 1 have been reported in the English literature. A 26-year-old female patient underwent colonoscopy, and a 4-cm-sized polypoid mass was identified in the sigmoid colon. Wedge resection of the mass showed a yellowish, hard submucosal tumor. Microscopically, the tumor was composed of wavy spindle cells, fibroblasts, and strands of collagen; the stroma showed scattered myxoid areas. The differential diagnoses included gastrointestinal stromal tumor, schwannoma, and neurofibroma. Immunohistochemistry for c-Kit, DOG (discovered on gastrointestinal stromal tumors)-1, smooth muscle actin, S-100 protein, and CD34 was performed. The tumor cells were diffusely positive for CD34 and S-100 protein, while they were completely negative for c-Kit, DOG-1, and smooth muscle actin. The final diagnosis was neurofibroma. Sporadic colonic neurofibroma is very rare. Given the diffuse positivity for CD34 and its rarity, colonic neurofibroma can be easily misdiagnosed as gastrointestinal stromal tumor. Recognition of this entity would be beneficial for pathologists to avoid misdiagnosis and unnecessary treatment.
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Affiliation(s)
- Soomin Ahn
- Department of Pathology, Ewha Womans University School of Medicine, Seoul, South Korea
| | - Choon Sik Chung
- Division of Colorectal Surgery, Hansol Hospital, Seoul, South Korea
| | - Kyoung-Mee Kim
- Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
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3
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Fernandes A, Ferreira AM, Serra P, Carvalho L. Intestinal ganglioneuromatosis: an unusual aetiology for occult gastrointestinal bleeding. BMJ Case Rep 2015; 2015:bcr-2015-211764. [PMID: 26424825 DOI: 10.1136/bcr-2015-211764] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/17/2023] Open
Abstract
Intestinal ganglioneuromatosis is a rare disorder of the enteric nervous system. It is often associated with neurofibromatosis type 1 and multiple endocrine neoplasia type 2b but, more rarely, it can present in a sporadic and isolated form. A 66-year-old man presented with a 14-year history of iron deficiency anaemia, with no visible bleeding, requiring occasional blood transfusions. Haematological causes of anaemia were thoroughly excluded, and conventional endoscopic and radiological examinations showed no lesions. Capsule enteroscopy identified an ulcerated stenosis in the small bowel, but the biopsies taken at balloon enteroscopy were inconclusive. The patient underwent a laparotomy, which revealed a stiff and ulcerated stenosis in the ileum. Histological analysis demonstrated the presence of diffuse intestinal ganglioneuromatosis. Three years after surgery, the patient is asymptomatic, with normal haemoglobin levels. This case demonstrates an isolated form of intestinal ganglioneuromatosis, with an atypical presentation, difficult to diagnose despite an exhaustive evaluation.
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Affiliation(s)
- Alexandra Fernandes
- Department of Gastroenterology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
| | - Ana Margarida Ferreira
- Department of Gastroenterology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
| | - Paula Serra
- Department of Pathology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
| | - Luís Carvalho
- Department of Surgery C, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
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4
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Trilling B, Faucheron JL. Intestinal obstruction in von Recklinghausen's disease. Colorectal Dis 2014; 16:762-8. [PMID: 24766607 DOI: 10.1111/codi.12649] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/08/2013] [Accepted: 02/07/2014] [Indexed: 02/08/2023]
Abstract
AIM Gastrointestinal manifestations occur in up to 25% of patients with neurofibromatosis type 1. This review reports all published cases of acute intestinal obstruction due to neurofibromatosis type 1 and identifies mechanisms of obstruction, the nature of the tumour and the outcome. METHOD A systematic review of the literature on acute intestinal obstruction due to neurofibromatosis type 1 was performed by searching the major electronic databases. All relevant references were reviewed for possible inclusion. All the references of the relevant articles were screened for any further articles that were missed in the initial search. RESULTS We identified 25 articles from 1972 to 2013 reporting 25 patients with von Recklinghausen's disease who underwent laparotomy for acute intestinal obstruction. Three further patients were operated on in our institution. The mean age of the patients was 44.2 years and the male/female ratio 15/13. The mechanisms of obstruction were intrinsic obstruction (16), extrinsic obstruction (8) and intussusception (4). Histology was reported to show neurofibroma (19), gastrointestinal stromal tumour (5) and adenocarcinoma (4). Among patients whose outcome was mentioned (17), 10 were asymptomatic after a mean follow-up of 1.5 years. CONCLUSION Acute bowel obstruction is a rare manifestation of neurofibromatosis type 1. Surgery is often necessary to treat the complication and to determine the exact nature of the tumour and the prognosis.
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Affiliation(s)
- B Trilling
- Colorectal Unit, Department of Surgery, University Hospital, Grenoble, Cedex, France
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5
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Abstract
Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and neurofibromatosis type 2 (NF2). NF1 is by far the most common presentation and is caused by an autosomal dominant mutation in the NF1 gene mapped to chromosome 17q11.2. The literature shows that gastrointestinal involvement is noted in systemic neurofibromatosis in up to 25% of patients, but isolated intestinal neurofibromatosis is a very rare manifestation. We herein present the case of a 70-year-old woman who was diagnosed with an isolated colonic neurofibroma without any systemic signs of neurofibromatosis; only a few case reports of this condition have been published to date.
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Affiliation(s)
- Haritha Chelimilla
- Division of Gastroenterology, Department of Medicine, Bronx Lebanon Hospital Center, Affiliated with Albert Einstein College of Medicine, Bronx, N.Y., USA
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6
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Vlenterie M, Flucke U, Hofbauer LC, Timmers HJLM, Gastmeier J, Aust DE, van der Graaf WTA, Wesseling P, Eisenhofer G, Lenders JWM. Pheochromocytoma and gastrointestinal stromal tumors in patients with neurofibromatosis type I. Am J Med 2013; 126:174-80. [PMID: 23331445 DOI: 10.1016/j.amjmed.2012.07.022] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/15/2012] [Revised: 07/17/2012] [Accepted: 07/18/2012] [Indexed: 12/22/2022]
Abstract
BACKGROUND Neurofibromatosis I may rarely predispose to pheochromocytoma and gastrointestinal stromal tumors. METHODS A 59-year-old woman with neurofibromatosis I presented with pheochromocytoma of the left adrenal gland. During surgery, 3 gastrointestinal stromal tumors adjacent to the stomach and small intestine were removed. Despite appropriate thrombosis prophylaxis, the patient died of a pulmonary embolus 2 days postoperatively. The second patient, a 55-year-old man with neurofibromatosis I and bilateral pheochromocytomas, had several small gastrointestinal stromal tumors adjacent to the jejunum during surgery. A review of the literature was conducted to identify patients with neurofibromatosis I with concurrence of pheochromocytoma and gastrointestinal stromal tumors and to define the specific clinical features of these patients. RESULTS In addition to our 2 patients, 12 other cases of neurofibromatosis I with concomitant occurrence of pheochromocytomas and gastrointestinal stromal tumors have been reported. Pheochromocytomas had adrenal locations in all patients. Two of the 14 patients had a mixed pheochromocytoma/ganglioneuroma. In 4 of the 14 patients, gastrointestinal stromal tumors were located along the stomach. The gastrointestinal stromal tumors in our 2 patients showed no somatic mutations in KIT and PDGFRA genes. A pulmonary embolism was diagnosed in 4 patients. CONCLUSIONS The simultaneous occurrence of pheochromocytoma and gastrointestinal stromal tumor should be considered in all patients with neurofibromatosis I presenting with an abdominal mass with symptoms suggestive of pheochromocytoma. Therefore, a pheochromocytoma should be excluded before a patient with neurofibromatosis I undergoes surgery for a gastrointestinal stromal tumor because an undiagnosed pheochromocytoma carries a high risk of life-threatening cardiovascular complications during surgery. Finally, this combination may be associated with an increased risk for thromboembolic events, but more studies are necessary to confirm this.
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Affiliation(s)
- Myrella Vlenterie
- Department of Medical Oncology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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7
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Gómez-Laencina AM, Martínez Díaz F, Izquierdo Sanjuanes B, Vicente Sánchez EM, Fernandez Salmerón R, Meseguer Peña F. Localized neurofibromatosis of the female genital system: a case report and review of the literature. J Obstet Gynaecol Res 2012; 38:953-6. [PMID: 22487305 DOI: 10.1111/j.1447-0756.2011.01816.x] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/01/2022]
Abstract
Neurofibromatosis within the female genital tract is uncommon. The vulva is the most frequent genital location, but it has rarely been reported in the context of the vagina, uterine cervix or ovaries. In spite of its rarity, neurofibroma is a neoplasm that should be considered in the differential diagnosis of pelvic masses, especially in patients with neurofibromatosis. In this paper we describe the case of a 71-year-old patient with pelvic pain and a uterine mass who underwent a hysterectomy after having been diagnosed with an 11-cm neurofibroma occupying the myometrium of the entire uterine corpus. There were no neurofibromas in the endometrium, serosa, fallopian tubes or ovaries. The patient had an unknown von Recklinghausen's disease.
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8
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Hindy P, Parvin R, Hanna K, Andrawes S, Gress F, Goodman A. An isolated neurofibromal polyp of the colon. Case Rep Gastroenterol 2012; 6:58-62. [PMID: 22423240 PMCID: PMC3304081 DOI: 10.1159/000336214] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/17/2023] Open
Abstract
Solitary neurofibromal colonic polyps are a rare entity, particularly outside the setting of neurofibromatosis type 1. The clinical significance of such lesions has not yet been established. Though typically benign tumors, neurofibromas have been reported to undergo malignant transformation, with an increased risk of malignancy when associated with neurofibromatosis. In this case report, we present the rare case of a man found to have an isolated colonic neurofibroma without any personal/family history or clinical features of neurofibromatosis. A 59-year-old man with a history of dyslipidemia and degenerative joint disease presented for a routine screening colonoscopy. The colonoscopy revealed no abnormalities except a 3 mm transverse colon polyp and another 4 mm polyp in the descending colon. Biopsy results showed the descending colonic polyp to be a tubular adenoma; however, multiple levels of the 3 mm transverse colon polyp revealed interlacing bundles of spindle cells extending into the lamina propria with comma-shaped nuclei consistent with findings seen in neurofibroma. Isolated colonic neurofibromas are rare and understudied. While they are usually benign, they may undergo malignant transformation, especially when associated with neurofibromatosis. Thus, patients presenting with isolated neurofibromas should be followed for development of neurofibromatosis and malignancies.
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Affiliation(s)
- Pierre Hindy
- Department of Gastroenterology, State University of New York Health Science Center at Brooklyn, Brooklyn, N.Y., USA
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9
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Donk W, Poyck P, Westenend P, Lesterhuis W, Hesp F. Recurrent abdominal complaints caused by a cecal neurofibroma: A case report. World J Gastroenterol 2011; 17:3953-6. [PMID: 22025885 PMCID: PMC3198026 DOI: 10.3748/wjg.v17.i34.3953] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/22/2011] [Revised: 03/25/2011] [Accepted: 04/01/2011] [Indexed: 02/06/2023] Open
Abstract
Gastrointestinal involvement of neurofibromatosis type 1 (NF1, Von Recklinghausen’s disease) is generally associated with the upper gastrointestinal tract. Abdominal manifestation of NF1 includes several tumors such as malignant peripheral nerve sheath tumors, gastrointestinal stromal tumors and ampulla of vater tumors. However, colonic involvement in NF1 patients is rare. We report a case of a patient presenting with dysphagia, weight loss, intermittent abdominal pain and constipation caused by a single cecal neurofibroma obstructing the ileocecal valve. Also gastrointestinal involvement of the lower tract should be considered in patients with NF1 presenting with abdominal complaints.
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10
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Slam KD, Bohman SL, Sharma R, Chaudhuri PK. Surgical Considerations for the Familial Cancer Syndrome, Neurofibromatosis 1: A Comprehensive Review. Am Surg 2009. [DOI: 10.1177/000313480907500203] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Abstract
Neurofibromatosis 1 is one of the more common in heritable disorders that surgeons may encounter. A plethora of systemic associations, both benign and malignant, can affect these patients, and an acute awareness of these associations is essential for proper surgical care. A complete review of this disorder from the surgical perspective follows, highlighting the importance of this awareness. A brief review on the management and follow-up of surgical malignancies associated with this disorder is included.
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Affiliation(s)
| | | | - Rupa Sharma
- Medical School, University of Toledo, Toledo, Ohio
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11
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Carter JE, Laurini JA. Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes. World J Gastroenterol 2008; 14:6569-71. [PMID: 19030214 PMCID: PMC2773348 DOI: 10.3748/wjg.14.6569] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Gastrointestinal tract involvement by neurofibromatous lesions is rare and occurs most frequently as one of the systemic manifestations of generalized neurofibromatosis type 1 (NF1). In this setting, the lesions may manifest as focal scattered neurofibromas or as an extensive diffuse neural hyperplasia designated ganglioneuromatosis. Occasionally, such lesions may be the initial sign of NF1 in patients without any other clinical manifestations of the disease. Rarely, cases of isolated neurofibromatosis of the large bowel with no prior or subsequent evidence of generalized neurofibromatosis have been documented. We present the case of a 52 year-old female with abdominal pain and alternating bowel habits. Colonoscopic evaluation revealed multiple small polyps in the cecum and the presence of nodular mucosa in the colon and rectum. Pathologic evaluation of the biopsies from the cecum, descending colon, sigmoid colon, and rectum revealed tangled fascicles of spindle cells expanding the lamina propia leading to separation of the intestinal crypts. Immunohistochemical stains helped confirm the diagnosis of diffuse intestinal neurofibromatosis. A thorough clinical evaluation failed to reveal any stigmata of generalized neurofibromatosis. This case represents a rare presentation of isolated intestinal neurofibromatosis in a patient without classic systemic manifestations of generalized neurofibromatosis and highlights the need in such cases for close clinical follow-up to exclude neurofibromatosis type I or multiple endocrine neoplasia type II.
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12
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Abstract
The missed mark or hamartia underlying each hamartoma syndrome is a mutation in a tumor suppressor gene. This sets the stage for the development of frequent and early tumors in multiple organs. Loss of function of the tumor suppressor in neoplastic cells leads to dysregulation of signaling pathways and tumor growth. The convergence of these signaling pathways to the mTOR pathway suggests that rapamycin or rapamycin-like drugs have potential for treatment, perhaps in combination with drugs targeting other signaling pathways. Haploinsufficient cells also play significant roles in tumor formation. Disrupting interactions between neoplastic cells and surrounding haploinsufficient cells using antiangiogenesis therapies represent an additional approach for treatment. It is hoped that the debilitating effects of these syndromes soon will be alleviated or even reversed though targeted therapies.
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Affiliation(s)
- Thomas N Darling
- Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA.
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13
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14
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Panteris V, Vassilakaki T, Vaitsis N, Elemenoglou I, Mylonakou I, Karamanolis DG. Solitary colonic neurofibroma in a patient with transient segmental colitis: Case report. World J Gastroenterol 2005; 11:5573-6. [PMID: 16222760 PMCID: PMC4320377 DOI: 10.3748/wjg.v11.i35.5573] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Neurofibromas of the large bowel are very rare and usually are part of the colonic involvement in neurofibromatosis type 1 (Nf1, von Recklinghausen’s disease). Solitary neurofibromas of the colon are extremely rare. We describe a case of an isolated neurofibroma that was found in the large bowel of a patient who suffered from segmental colitis and presented with bloody diarrhea. A review of the literature is also included, concerning the disclosure of isolated neurofibromas in the gut and other body parts and the type of gastrointestinal involvement in von Recklinghausen’s disease.
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Affiliation(s)
- Vasilios Panteris
- Department of Gastroenterology, Tzaneion General Hospital, Zanni and Afentouli 1, Piraeus 18536, Greece.
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15
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Tato BP, Sáez AC, Recuero JLD, Dorado MM, Fernández PR, de Paz FS. Neurofibromatosis of atypical presentation. J Eur Acad Dermatol Venereol 2005; 19:608-11. [PMID: 16164720 DOI: 10.1111/j.1468-3083.2005.01225.x] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Abstract
Neurofibromatosis (NF) is considered to be a heterogeneous neuroectodermal disease clinically defined by the presence of neurofibromas, multiple café-au-lait spots, intertriginous freckles and Lisch nodules. Mosaicism explains atypical presentations of the disease. Early mutations, before tissue differentiation, give rise to generalized disease. We report an atypical presentation of neurofibromatosis with an unusual distribution of neurofibromas, a peculiar, clinically and pathologically, neurofibroma on the trunk and the association with an ovarian serous cystoadenofibroma.
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Affiliation(s)
- B P Tato
- Department of Dermatology, Hospital Clinico San Carlos, Madrid, Spain.
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16
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Kim J, Han D, Hong CH, Lee HL, Kim JP, Sohn JH, Hahm JS. Colonic lymphangiomatosis associated with protein-losing enteropathy. Dig Dis Sci 2005; 50:1747-53. [PMID: 16133983 DOI: 10.1007/s10620-005-2929-6] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/11/2004] [Accepted: 12/28/2004] [Indexed: 12/17/2022]
Affiliation(s)
- Jinbae Kim
- Department of Internal Medicine, Division of Gastroeneterology and Hepatology, Hanyang University Kuri Hospital, Kuri, Kyunggi-Do, Republic of Korea
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17
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Bagan JV, Sanchis JM, Jiménez Y, Murillo J, Poveda R, Diaz JM. Malignant peripheral nerve sheath tumor of the maxila. ACTA ACUST UNITED AC 2005. [DOI: 10.1016/j.ooe.2004.12.003] [Citation(s) in RCA: 18] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
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18
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Bakker JR, Haber MM, Garcia FU. Gastrointestinal Neurofibromatosis: An Unusual Cause of Gastric Outlet Obstruction. Am Surg 2005. [DOI: 10.1177/000313480507100202] [Citation(s) in RCA: 28] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
Abstract
Neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, is a common autosomal dominant condition occurring in approximately 1/3000 births. NF-1 is known to be associated with gastrointestinal neoplasms in 2–25 per cent of patients. We report the first case of gastric outlet obstruction with perforation caused by neurofibroma in a patient with NF-1. The literature is reviewed, examining 61 previously reported cases of noncarcinoid gastrointestinal (GI) neoplasms in patients with NF-1 for symptoms, location, and types of neoplasms. Neoplasms were located most often in the small intestine (72%). Neurofibromas, found in 52 per cent of patients, were the most frequently diagnosed benign neoplasms followed by leiomyomas (13%), ganglioneurofibromas (9.8%), and gastrointestinal stomal tumor (GIST) (6.5%). Adenocarcinoma was present in 23 per cent of patients. Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms from which symptomatic patients are likely to experience significant morbidity.
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Affiliation(s)
| | - Marian M. Haber
- Department of Pathology, Drexel University, College of Medicine, Philadelphia, Pennsylvania
| | - Fernando U. Garcia
- Department of Pathology, Drexel University, College of Medicine, Philadelphia, Pennsylvania
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19
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Affiliation(s)
- Kelly Seymour-Dempsey
- Department of Surgery, University of Texas Medical School at Houston and the MD Anderson Cancer Center, 77030, USA
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20
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Kunimura T, Ooike N, Ishikawa Y, Inagaki T, Morohoshi T. A resected case of adenoneurofibroma of the colon: is it a new entity of the colonic tumor? Am J Gastroenterol 2002; 97:1062-4. [PMID: 12003392 DOI: 10.1111/j.1572-0241.2002.05632.x] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
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21
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Kapur RP. Neuropathology of paediatric chronic intestinal pseudo-obstruction and related animal models. J Pathol 2001; 194:277-88. [PMID: 11439358 DOI: 10.1002/path.885] [Citation(s) in RCA: 29] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
Abstract
Chronic intestinal pseudo-obstruction (CIP) in paediatric patients is due to heterogeneous aetiologies that include primary disorders of the enteric nervous system. These conditions are poorly delineated by contemporary diagnostic approaches, in part because the complex nature of the enteric nervous system may shelter significant physiological defects behind subtle or quantitative anatomical changes. Until recently, relatively few experimental animal models existed for paediatric CIP. However, the availability of rodent models, particularly novel mutants created in the last few years by genetic manipulations, has brought unprecedented opportunities to investigate molecular, cellular, physiological, and histological details of enteric neuropathology. Information gleaned from studies of these animals is likely to change diagnostic and therapeutic approaches to paediatric CIP and related conditions.
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Affiliation(s)
- R P Kapur
- Department of Pathology, University of Washington, Seattle, Washington 98195, USA.
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22
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Abstract
Acute pseudo-obstruction may manifest clinically in one of three forms--acute gastroparesis, ileus, and acute colonic pseudo-obstruction (Ogilvie's syndrome). Though formerly associated primarily with the postoperative state, these entities are increasingly recognized in association with a wide variety of major medical problems. There are few controlled studies to guide the clinician in the management of these disorders. Treatment remains largely empirical, and time-honored, based primarily on "bowel rest," nasogastric decompression, and supportive care. While a wide variety of pharmacologic approaches have been advocated, few have been subjected to, or survived, the rigors of a properly controlled trial. Neostigmine is a notable exception, and has been shown to be effective in Ogilvie's syndrome. Perforation is a significant threat in megacolon; colonoscopic, or surgical decompression may, therefore, be indicated. Both are associated with significant risks in this context, but may prevent progression to perforation with its attendant mortality. New approaches seek to exploit current concepts in the pathophysiology of ileus and megacolon but have not, as yet, achieved efficacy in human studies.
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23
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Abstract
Intussusception is the invagination of one portion of the intestine into another and is the most common form of intestinal obstruction in infants. This report reviews the clinical presentation and diagnostic and treatment options available for intussusception. The etiologies of childhood intussusception are discussed. Details and literature review are provided on the advantages and disadvantages of ultrasonography, barium enema, air contrast enema, and surgery in the diagnosis and treatment of intussusception.
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Affiliation(s)
- J W DiFiore
- Department of Pediatric Surgery, The Cleveland Clinic Foundation Children's Hospital, OH 44195, USA
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