• adult gastroenterology
• gastrointestinal pathology
• isolated neurofibroma
• neurofibroma
•  colonoscopy

• Case report
• Colonoscopy
• Endoscopic ultrasound
• Neurofibroma
• Neurofibromatosis type 1
• Neurofibromatosis type 2
• Spindle cell tumor

The occurrence of sporadic colonic neurofibroma particularly in a patient without neurofibromatosis type 1 has been rarely reported. Therefore, the clinical significance of this disease has not been fully elucidated.

An 81-year-old woman with a positive fecal occult blood test result was referred to our institution for the evaluation of anemia. On colonoscopy, a 50-mm submucosal tumor-like mass was found in the hepatic flexure of the colon. Superficial biopsy and boring biopsy showed unspecific granulation tissues, and immunostaining revealed that the mesenchymal tumor was negative for CD34, c-kit, desmin, and S100 protein. The patient underwent laparoscopic right colectomy with complete mesocolic excision (CME). Pathologically, the tumor was diagnosed as neurofibroma.

Gastrointestinal neurofibromas are known to cause clinical symptoms. No colonic neurofibroma has been diagnosed before resection. Moreover, neurofibromas, particularly large lesions, reportedly undergo malignant transformation. Surgical extirpation with clear margins is the primary treatment, and laparoscopic surgery is considered acceptable for colonic neurofibroma and colon cancer.

Based on our experience, a preoperative diagnosis was impossible for colonic neurofibroma. Laparoscopic surgery with CME is considered feasible for sporadic colonic neurofibroma.

• Colon
• Endoscopy
• Laparoscopic surgery
• Neurofibroma

Gastrointestinal neurofibromas are commonly found in patients diagnosed with neurofibromatosis type 1. However, isolated gastrointestinal neurofibromas are a rare entity and only fourteen cases of isolated colorectal neurofibromas have been documented in literature. Isolated gastrointestinal neurofibromas have not been associated with Lynch syndrome (LS). Patients with LS are at an increased risk of colorectal cancer, and are recommended to undergo screening colonoscopy.

A 33-year-old healthy female with a family history of LS was found to have unresectable polyp in the ascending colon on screening colonoscopy suspicious for malignancy. The patient was asymptomatic and had no stigmata of neurofibromatosis. A staging workup for colorectal cancer revealed no evidence of metastatic disease. A discussion with the patient resulted in the decision to undergo a segmental resection with ongoing surveillance. The patient underwent a laparoscopic right hemicolectomy. Histopathology was consistent with a gastrointestinal neurofibroma. Post-operatively, the patient recovered well. She will not require further treatment with regards to her colonic neurofibroma, but will continue to follow-up for ongoing surveillance of her LS.

We present the first case of an isolated colonic neurofibroma in a patient with LS. This case explores considerations for the management of isolated gastrointestinal neurofibromas given the lack of guidelines in literature.

• Isolated gastrointestinal neurofibroma
• Colonic neurofibroma
• Gastrointestinal neurofibromatosis
• Lynch syndrome
• Case report

Ganglioneuromas (GNs) in adults are uncommon clinical entities, especially in the colon. Patients with GNs without multiple endocrine neoplasia or neurofibromatosis-I are normally asymptomatic; however, GNs can present with abdominal pain, weight loss, bleeding, and anemia, depending on the size and location. Here, we present a case of solitary colonic GN treated with endoscopic mucosal resection. A 40-year-old Japanese outpatient with a positive fecal occult blood test visited our hospital. We performed diagnostic colonoscopy, which revealed a polyp of 15-mm diameter in the ascending colon. Electromagnetic resonance imaging was performed, and the histological examination revealed benign polypoid spindle-cell proliferation, ganglion cells, and thick nerve bundles, which was positive for S-100 protein immunoreactivity consistent with GN.

• Colonoscopy
• Fecal occult blood test
• Ganglioneuroma

• Isolated
• neurofibroma
• small intestine

•

Appendiceal neurofibromas (AN) in Neurofibromatosis type (NF) 1 are rare.

Neurofibromas are a characteristic of the autosomal dominant disorder Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease. Appendiceal neurofibromas are extremely rare, and low-grade appendiceal mucinous neoplasms (LAMNs) have not previously been reported in NF1.

A 62-year-old man with NF1 was scheduled for elective surgical treatment of an asymptomatic, enlarged and diffusely thickened appendix that remained after curative antimicrobial treatment of acute appendicitis. Laboratory analysis revealed all normal. Colonoscopy showed thickened appendiceal mucosa projecting into the cecum. A sample of the mucosa was found to be pathologically benign. The patient was preoperatively diagnosed with treated acute appendicitis with chronic appendiceal inflammation versus appendiceal neoplasms. Laparoscopic cecectomy was performed. Multiple neurofibromas were observed in the muscle layer, submucosa, and mucosa of the appendix on histopathological examination. Immunohistochemical examination showed positive staining for S-100. Pathologically, the patient was diagnosed with appendiceal neurofibroma consistent with NF1 with LAMNs. His postoperative course was unremarkable. He was discharged on post-operative day 3 and remained in good health 7 month after surgery.

Appendiceal neurofibromas are often preoperatively diagnosed as appendicitis. Appendiceal neurofibromas should be considered in patients with NF1 who are suspected of having appendicitis.

• Appendiceal neurofibroma
• Low-grade appendiceal mucinous neoplasm
• Neurofibromatosis type 1
• von Recklinghausen’s disease

Isolated neurofibromas that affect the gastrointestinal tract are rare and almost always manifest as neurofibromatosis type 1 or multiple endocrine neoplasia type 2b. In this paper, we present a case of a 24-year-old female with abdominal pain who discharged a neurofibroma in her stool without any blood on it. A colonoscopy showed multiple small polyps in the sigmoid colon and a nodule in the ileocecus. The pathology results and the immunohistochemical stains of the removed neoplasm from the ileocecus confirmed the diagnosis was a bowel neurofibroma. We report a rare case of ileocecal neurofibroma due to the patient’s affected gastrointestinal tract, without any associated systemic syndrome other than a neurofibroma discharged in the stool.

• Neurofibroma
• Isolated
• Gastrointestinal tract
• Ileocecus
• Clinical presentation

Mucosal Schwann-cell hamartoma is a rare mesenchymal polyp that presents in the intestine. Despite lacking ganglion cells, it resembles a gastrointestinal ganglioneuroma.

We report a case of synchronous mucosal Schwann-cell hamartomas in a young male patient, who presented with a single discrete polyp in the mid-rectum and multiple polypoid mucosal lesions in the distal rectum.

To the best of our knowledge, this is the first report of a case of multiple mucosal Schwann-cell hamartomas.

•

Spontaneous hemoperitoneum (SH) is a rare entity.

Spontaneous hemoperitoneum (SH) is a rare entity which can be life-threatening. Gastrointestinal neurofibromas are rare. Occasionally, such lesions may be the initial sign of NF1 in patients without any other clinical manifestations of the disease. The clinical presentations of isolated neurofibromatous lesions of the intestines are variable. In asymptomatic patient no treatment may be required and patient may be kept on follow up. Occasionally, they manifest with complications such as intestinal bleeding, obstruction or perforation. Surgery is the treatment of choice in symptomatic intestinal neurofibroma. We present the case of a 55 year-old male with acute abdomen due to rupture of isolated neurofibroma as one of the cause of SH. This case represents a rare presentation of isolated intestinal neurofibromatosis in a patient without systemic manifestations and highlights the need for high index of suspicion to exclude neurofibromatosis type 1 or multiple endocrine neoplasia type 2b.

• Gastrointestinal tract (GIT)
• Multiple endocrine neoplasia(MEN)
• Neurofibroma
• Spontaneous hemoperitonium (SH)

A 62-year-old female with neurofibromatosis type 1 (NF1; also von Recklinghausen’s disease) was diagnosed with a giant, thick-walled tubular mass, mainly located in the right abdominal area on computed tomography, following an examination for intermittent abdominal pain and increasing abdominal distension. According to the clinical manifestations and imaging features, the giant tubular mass was considered most likely to be a dilated fallopian tube associated with infection, while the possibility of obstructed bowel loops was excluded. However, the subsequent laparotomy revealed a giant appendix, caused by a large neurofibroma in the root region of the appendix, which occluded the lumen. Neurofibroma of the appendix is extremely rare, even in patients with NF1. To the best of our knowledge, only three such cases have previously been reported in the English literature to date.

• appendix
• neurofibromatosis
• neurofibromatosis type 1
• von Recklinghausen’s disease

• ganglioneuromatosis
• goat
• immunohistochemistry
• small intestine

We report the case of a 25-year-old male with Neurofibromatosis type I (NF-1), who presented at the time of admission with clinical findings of an acute abdomen caused by a mechanical obstruction. Computerized tomography showed a volvulus of the terminal ileum with mesenteric swirling as the cause of the patient’s symptoms. Consecutive exploratory laparotomy confirmed the diagnosis and 70 cm of the small intestine was resected due to an affection of the mesentery by multiple neurofibromas. The gastrointestinal tract is affected in approximately 10% of patients with NF-1, however the mesentery is almost always spared. Here we describe the unique case of a patient with a volvulus caused by mesenteric manifestation of von Recklinghausen’s disease, emphasizing the role of surgery in a team of multidisciplinary specialists to treat this multiorganic disease.

• Volvulus
• Obstruction
• Von Recklinghausen´s disease
• Neurofibromatosis type I
• Mesenteric neurofibromas

• Abdomen, Acute/etiology
• Adult
• Biomarkers, Tumor/analysis
• Biopsy
• Humans
• Ileal Neoplasms/chemistry
• Ileal Neoplasms/complications
• Ileal Neoplasms/diagnosis
• Ileal Neoplasms/surgery
• Immunohistochemistry
• Intestinal Volvulus/diagnosis
• Intestinal Volvulus/etiology
• Intestinal Volvulus/surgery
• Male
• Neurofibromatosis 1/complications
• Neurofibromatosis 1/diagnosis
• Neurofibromatosis 1/metabolism
• Neurofibromatosis 1/surgery
• Tomography, X-Ray Computed

• Constipation
• GIT
• Mucosal biopsy
• Neural proliferation
• Neurofibromatosis

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.

• Colonic polyps
• Intestinal
• Neurofibroma
• Neurofibromatosis

• intestine
• ganglioneuromatosis
• men 2b
• nf-1
• cowden syndrome

• GIST
• Gastrointestinal stromal tumor
• NF-1
• Neuroendocrine tumor
• Neurofibromatosis
• Recklinghausen disease

• Biopsy
• DNA Mutational Analysis
• Gastrointestinal Neoplasms/genetics
• Gastrointestinal Neoplasms/pathology
• Gastrointestinal Stromal Tumors/genetics
• Gastrointestinal Stromal Tumors/pathology
• Genetic Predisposition to Disease
• Humans
• Male
• Middle Aged
• Mutation
• Neurofibromatosis 1/genetics
• Neurofibromatosis 1/pathology
• Phenotype
• Precancerous Conditions/genetics
• Precancerous Conditions/pathology
• Predictive Value of Tests
• Prognosis

• Neurofibroma
• Neurofibromatosis
• Polyp

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.

• Neurofibromatosis type 1
• Von Recklinghausen’s disease
• Colon
• Neurofibroma
• Treatment