Relevant bibliographies by topics / Gastrointestinal neurofibroma

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Academic literature on the topic 'Gastrointestinal neurofibroma'

Author: Grafiati
Published: 4 June 2025
Last updated: 23 June 2025

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Journal articles on the topic "Gastrointestinal neurofibroma"

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Cavallaro, Giuseppe, Ursula Basile, Andrea Polistena, et al. "Surgical Management of Abdominal Manifestations of Type 1 Neurofibromatosis: Experience of a Single Center." American Surgeon 76, no. 4 (2010): 389–96. http://dx.doi.org/10.1177/000313481007600416.

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Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and nonneoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. The mainly involved districts are skin, the central nervous system, and eye and there is a wide range of severity of clinical presentations. Abdominal manifestations of NF1 include five kinds of tumors: neurogenic tumors (neurofibromas, malignant peripheral nerve sheath tumors [MPNSTs], and ganglioneuromas); neuroendocrine tumors (pheochromocytomas and carcinoids); nonneurogenic gastrointestinal stromal tumors (GISTs); embryonal tumors; and miscellaneous. The present experience depends on the participation in the National Project for Diagnosis and Treatment of Rare Diseases. In the group of patients with a diagnosis of von Recklinghausen disease, 10 patients underwent surgical treatment for gastrointestinal and retroperitoneal tumors associated with NF1. Three patients underwent adrenalectomy for pheochromocytoma (in one case associated with jejunal wall neurofibroma); two patients were found to be affected by MPNST (recurrent and unresectable in one case). One patient was affected by giant gastric GIST and jejunal neurofibroma; two patients were affected by extraperitoneal neurofibroma (pararenal and pararectal position); one patient was affected by giant colic neurofibroma and one patient was affected by retroperitoneal bilateral plexiform neurofibromas. Early diagnosis of these abdominal manifestations is very important because of the risk of malignancy, organic complications (such as pheochromocytoma), or hemorrhagic–obstructive complications such as in case of tumors of the gastrointestinal tract (GISTs and neurofibromas). The importance of an annual clinical evaluation on the part of a multidisciplinary pool of clinicians in highly specialized centers allows early detection of complications and of neoplastic transformation. Genetic screening allows preclinical diagnosis with a sensibility of 95 per cent. Further studies are necessary to detect predictive factors of malignant tumor development of severe clinical conditions.
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2

Kim, Dmitriy, Elizabeth George, Maheshwari Nalla, and Subin Chirayath. "A rare case of a solitary perianal neurofibroma." International Surgery Journal 5, no. 7 (2018): 2633. http://dx.doi.org/10.18203/2349-2902.isj20182787.

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Neurofibromas are benign nerve sheath tumors commonly associated with Neurofibromatosis type 1 (NF1). In patients without the diagnosis of the NF1, these lesions are referred to as solitary neurofibromas. Gastrointestinal involvement is exceedingly rare in NF1 and can manifest in a variety of different ways. This case report involves a 50-year-old hispanic female with an isolated neurofibroma of the perianal region in the absences of any medical or family history of NF1. Since there are very few cases of solitary neurofibromas reported in literature, it is important to document such cases and follow patients with this disease closely given that it can be an initial presentation of NF1 and because of its possible malignant potential.
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3

Ahn, Soomin, Choon Sik Chung, and Kyoung-Mee Kim. "Neurofibroma of the Colon: A Diagnostic Mimicker of Gastrointestinal Stromal Tumor." Case Reports in Gastroenterology 10, no. 3 (2016): 674–78. http://dx.doi.org/10.1159/000452202.

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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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4

Van de Steen, Katrien, Robert Riedl, Sébastien Strypstein, and Evert-Jan Boerma. "Appendiceal neurofibroma and diverticula in a neurofibromatosis type 1 patient with chronic right lower quadrant pain." BMJ Case Reports 13, no. 6 (2020): e234383. http://dx.doi.org/10.1136/bcr-2020-234383.

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Neurofibromatosis type 1 (NF1, Von Recklinghausen disease) is an autosomal dominant disease with a birth incidence of 1/2500–3000. The most common presentations of NF1 are cutaneous presentations like café-au-lait spots and neurofibromas. 5%–25% of patients with NF1 have gastrointestinal manifestations of the disease. Appendiceal neurofibroma are extremely rare and only a few cases are described in literature. An appendectomy is indicated because of high risk of appendicitis and malignant transformation. We report the case of a 74-year-old male patient with a history of NF1 with chronic right lower quadrant pain. Successive imaging scans showed suspicion of chronic appendicitis. A diagnostic laparoscopy, resulting in a laparoscopic appendectomy was performed without complications. Histopathology showed appendiceal neurofibroma and diverticula. The postoperative course was uneventful. In patients with NF1 with right lower quadrant pain benign appendiceal neurofibroma should be included in the differential diagnosis. A diagnostic laparoscopy should be performed followed by an appendectomy.
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5

Bakker, Jennifer R., Marian M. Haber, and Fernando U. Garcia. "Gastrointestinal Neurofibromatosis: An Unusual Cause of Gastric Outlet Obstruction." American Surgeon 71, no. 2 (2005): 100–105. http://dx.doi.org/10.1177/000313480507100202.

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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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6

Thoo, Foong Shi, and Zabidi Ahmad Muhamad. "Primary Small Bowel Neurofibroma Induced Intussusception Complicated with Small Bowel Obstruction and Perforation: A Case Report." Journal of Biomedical and Clinical Sciences 5, no. 2 (2020): 32–35. https://doi.org/10.5281/zenodo.4548107.

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Neurofibromatosis (NF) is a genetic neurological disorder which can lead to abnormal tumour suppression. Neurofibromatosis associated neurological tumour is usually benign in nature, only occasionally can become malignant. Gastrointestinal involvement is reported to be infrequent with only up to 25% of patients with neurofibromatosis showing involvement. Solitary gastrointestinal neurofibroma is very rare, with most cases involving the stomach or small bowel. We report here a case of solitary small intestinal neurofibroma with no other associated systemic signs, causing intussusception and intestinal obstruction.
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7

Nishikawa, Katsunori, Noburo Omura, Masami Yuda, et al. "Video-Assisted Thoracoscopic Surgery for Localized Neurofibroma of the Esophagus: Case Report and Review of the Literature." International Surgery 98, no. 4 (2013): 461–65. http://dx.doi.org/10.9738/intsurg-d-12-00021.1.

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Abstract Esophageal submucosal tumors are less common than other gastrointestinal tract tumors. Leiomyoma is the most common benign esophageal SMT, accounting for more than 70% of these tumors. We report on a case of a 56-year-old woman with a 3-cm diameter midthoracic esophageal submucosal tumor. Magnetic resonance imaging suggested leiomyoma or neurofibroma. Video-assisted thoracoscopic surgery was performed to enucleate the tumor from the esophageal wall by splitting the muscle layers. The postoperative course was uneventful, and the patient was discharged on postoperative day 8. Immunohistochemical staining confirmed the diagnosis of esophageal neurofibroma. Gastrointestinal tract involvement of neurofibromatous lesions is rare and occurs most frequently as a systemic manifestation of von Recklinghausen disease. Cases of localized esophageal neurofibroma with prior or subsequent evidence of generalized neurofibromatosis have rarely been documented. This is a rare case of isolated esophageal neurofibroma without classic systemic manifestations of generalized neurofibromatosis, and it is the first reported case treated by video-assisted thoracoscopic surgery.
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8

Soltanpoor, Pardis, Faranak Behnaz, Mehdi Farokhi, Reza Jalili Khoshnood, and Hamid Reza Azizi Farsani. "Anesthetic Considerations in a Patient With Plexiform Neurofibromatosis: A Case Report." International Clinical Neuroscience Journal 5, no. 4 (2018): 169–70. http://dx.doi.org/10.15171/icnj.2018.30.

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Plexiform neurofibromatosis is an uncommon variant of neurofibromatosis type 1 (NF1) (Von Recklinghausen’s disease). There is a greater prevalence of neurofibromatosis 1 in patients with other neoplasms, such as rhabdomyosarcomas, gastrointestinal stromal tumors (GISTs), pheochromocytomas, carcinoid tumors and ganglioneuromas. We report the anesthetic implications of a case of a 33 year old patient with plexiform neurofibromatosis and a history of pheochromocytoma which was operated on previously. He presented with painless swelling on upper eye-lead since childhood and had multiple caféau-lait spots and neurofibromas on the trunk. The surgery was done in two sessions first on the plexiform neurofibroma of the eye followed by the operation on the brain mass.
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9

Samartín Toimil, Cristina, Ana María Gay Fernández, Antoni Tardío Baiges, Juan Carlos Primo Álvarez, and Jose Enrique Casal Núñez. "Gastrointestinal bleeding caused by neurofibroma of the ileum." Gastroenterología y Hepatología (English Edition) 41, no. 4 (2018): 267–69. http://dx.doi.org/10.1016/j.gastre.2018.04.012.

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10

ABRAMSON, LISA P., BRUCE A. ORKIN, and ARNOLD M. SCHWARTZ. "Isolated Colonic Neurofibroma Manifested by Massive Lower Gastrointestinal Bleeding and Intussusception." Southern Medical Journal 90, no. 9 (1997): 952–54. http://dx.doi.org/10.1097/00007611-199709000-00020.

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Book chapters on the topic "Gastrointestinal neurofibroma"

1

Glyn, Tamara, and Frank Frizelle. "Small bowel mesenchymal tumours." In Duodenum and Small Bowel, edited by John A. Windsor, Sanjay Pandanaboyana, Anil K. Agarwal, Samiran Nundy, and Dirk J. Gouma. Oxford University PressOxford, 2022. http://dx.doi.org/10.1093/med/9780192862440.003.0018.

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Abstract Mesenchymal tumours of the small bowel are tumours originating from mesodermal-derived precursor cells that develop into bone, cartilage, or other connective tissues, such as blood vessels, adipose tissue, smooth muscle, or fibroblasts. Most are found outside the abdomen; however, some can be found in association with the small bowel. These include gastrointestinal stromal tumours, leiomyosarcomas, leiomyomas, lipomas, small bowel desmoids, as well as rare entities such as clear cell sarcoma, inflammatory myofibroblastic tumours, and neurogenic polyps (schwannoma, granular cell tumour, perineurioma, neurofibroma, ganglioneuroma, and gangliocytic paraganglioma). These tumours are rare and their clinical presentation is usually non-specific, usually with bowel obstruction or bleeding. The difficulty accessing the small bowel for investigation and their rarity makes the detection of these tumours a challenge. Treatment and outcome depend on the specific histopathology of the lesions.
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2

Acosta, Maria T. "Neurofibromatosis Type 1: Cognitive and Behavioral Phenotype: Diagnosis and Treatment." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0045.

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Neurofibromatosis type 1 (Nf1) is a neurocutaneous disorder with a prevalence of approximately 1 in 2,500–3,500 individuals (Ferner et al. 2007). The physical manifestations of Nf1, such as café au lait spots, axillary freckling, iris hamartomas (Lisch nodules), osseous lesions (sphenoid wing dysplasia, pseudoarthrosis), and benign as well as malignant neural tumors (neurofibromas, optic gliomas), are well recognized (Castle et al. 2003; Ferner et al. 2007). National Institutes of Health (NIH) criteria are currently used for clinical diagnosis (1988) (Table 31.1). The clinical severity of this disorder is quite variable, and approximately 20% of children with Nf1 will later have considerable physical complications (Castle et al. 2003; Ferner et al. 2007; Williams et al. 2009). Other clinical manifestations are abnormalities of the cardiovascular, gastrointestinal, renal, and endocrine systems, facial and body disfigurement, cognitive deficit, and malignancies of the peripheral nerve sheath and central nervous system. The tumors that occur in Nf1 are dermal and plexiform neurofibromas, optic gliomas, malignant peripheral nerve sheath tumors (MPNSTs), pheochromocytomas, and rhabdomyosarcomas (Castle et al. 2003). Children with Nf1 have an increased risk of developing myeloid disease, particularly juvenile chronic myeloid leukemia. Some 30%–40% of Nf1 patients develop plexiform neurofibromas (Szudek, Evans, and Friedman 2003). Malignant peripheral nerve sheath tumors are present in 5%–10% of cases (Evans et al. 2002), often in preexisting plexiform neurofibromas (Castle et al. 2003). Although many see the predisposition to cancer as the major concern regarding Nf1, some of the more prevalent features are not directly related to tumors (Acosta, Gioia, and Silva 2006). Cognitive dysfunction, academic difficulties, and school failure, occur in 40%–80% (Hyman, Arthur, and North 2006; Krab et al. 2008; North et al. 1997). These complications affect the day-to-day life of these children, and are the largest cause of lifetime morbidity in the pediatric Nf1 population (Acosta et al. 2006). These deficits impact on long-term adaptation to society (Acosta et al. 2006; Barton and North 2007; Krab et al. 2008; Krab et al. 2009).
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