Solitary intraosseous neurofibroma in the mandible mimicking a cystic lesion:A case report and review of literature

BACKGROUND Neurofibromas are benign tumors of a neurogenic origin.If these tumors occur without any other signs of neurofibromatosis,they are classified as isolated neurofibromas.Neurofibromas in the oral cavity mostly occur within soft tissues,indicating that solitary intraosseous neurofibromas in the mandible are rare.Due to the absence of specific clinical manifestations,early diagnosis and treatment of these tumors are difficult to achieve.CASE SUMMARY A 37-year-old female patient visited our hospital due to numbness and swelling of the gums in the right lower molar area that had persisted for half a month.The patient’s overall condition and intraoral examination revealed no significant abnormalities.She was initially diagnosed with a cystic lesion in the right mandible.However,after a more thorough examination,the final pathological diagnosis was confirmed to be neurofibroma.Complete tumor resection and partial removal of the right inferior alveolar nerve were performed.As of writing this report,there have been no signs of tumor recurrence for nine months following the surgery.CONCLUSION This case report discusses the key features that are useful for differentiating solitary intraosseous neurofibromas from other cystic lesions.

Isolated colonic neurofibroma in the setting of Lynch syndrome:A case report and review of literature

BACKGROUND 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.CASE SUMMARY 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.CONCLUSION 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 colonic neurofibroma, a rare tumor: A case report and review of literature

BACKGROUND Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components.They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1.Isolated colonic neurofibroma without systemic manifestations is a rarely reported clinical entity.Here we present a case of a 51 years old male with an isolated colonic neurofibroma seen on a screening colonoscopy.CASE SUMMARY Fifty-one years old male who was otherwise healthy without a significant family history of cancer underwent a screening colonoscopy and was found have a 2.3 cm×1.4 cm lesion in the colon.Tissue biopsy revealed a spindle cell tumor.Magnetic resonance imaging of the pelvis was negative for adenopathy.He underwent an endoscopic ultrasound that showed an ill-defined avascular lesion of mixed echogenicity measuring 2.8 cm×15.2 cm in the submucosa with no communication with muscularis mucosa or propria.Immunohistochemistry staining of the tumor was strongly positive for S100,with rare penetrating axons deep within the tumor.Tumor cells were negative for c-kit and desmin and had low Ki-67 index.These findings were consistent with a solitary colonic submucosal neurofibroma.A detailed history and physical examination did not reveal any evidence of extraintestinal neurofibromatosis.He underwent transanal surgical resection of the tumor.The patient tolerated the procedure well without any complications.CONCLUSION While neurofibromas have been well described in literature,an isolated colonic neurofibroma is a rare pathological entity.Malignant transformation of neurofibromas has been reported in patients with neurofibromatosis syndromes.We report a case of isolated colonic neurofibroma and highlight the importance of resection due to the increased risk of tumorigenesis.

Solitary plexiform neurofibroma of the stomach:A case report

Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has not been reported in the literatures.Here we present a case of solitary PN of the stomach,which was not associated with von Recklinghausen disease.A38-year-old male presented abdominal pain and distention for 7 d.The patient underwent endoscopy of the upper gastrointestinal tract,which revealed a 3.5 cm protruding and cauliflower-shaped mass with a shallow1 cm central ulcer in the greater curvature of the stomach.The lesion was removed by laparoscopic surgery.Histological examination demonstrated characteristic histological findings of spindle-shaped cells.Immunohistochemical analysis showed that the tumor cells were positive for S-100 protein,but negative for CD34,KI-67,CD117,and actin.Based on histological findings,gastrointestinal stromal tumor could be excluded,and thus the case was confirmed as PN.We described the clinical features,physical examination,endoscopic findings,and histopathological examination of this case.

Giant Mediastinal Neurofibroma in a Child with Neurofibromatosis Type I

Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare pediatric NF1 case with an unresectable giant mediastinal tumor. Case: A 6-year-old girl with wheezing was admitted to our institution for the further evaluation of a right mediastinal mass on plain chest radiography. On examination, there were multiple café au lait spots mainly on the trunk, and a well-defined, immobile, painless mass was palpable on her neck. The mediastinal lesion was detected as nonuniform mass surrounding the aortic arch, pulmonary artery, and right main bronchus on the contrast-enhanced CT and MRI. Open biopsy was useful to rule out malignancy and revealed neurofibroma, and contributed to follow up and treatment. Discussion: Open biopsy was useful to rule out malignancy, such as malignant peripheral nerve sheath tumor, revealed neurofibroma, and also contributed to follow up and treatment. The authors report successful management by open biopsy and discuss several clinical points regarding mediastinal neurofibroma for NF1.

A Proof-of-Concept Assessment of the Safety and Efficacy of Intralesional Diclofenac in the Treatment of Cutaneous Neurofibromas

The objectives of this study were to assess the safety and efficacy of intralesionally administered diclofenac in the treatment of cutaneous neurofibromas in patients with NF1. This was a proof-of-concept, prospective, safety and efficacy study of the effect of intralesionally administered diclofenac 25 mg/ml given once a week to 3 target cutaneous neurofibromas for 4 consecutive weeks. Overall, there was no significant change in neurofibroma size. During the study, some treated lesions developed signs of necrosis and fell off after a few weeks, but none of the control neurofibromas fell off. There were no significant changes in patient’s vital signs. A few adverse events occurred, mostly at the injection sites. During the study, some neurofibromas developed necrosis after the diclofenac injections and eventually detached from the patient. Overall, diclofenac was well tolerated, suggesting minimal systemic exposure, which required confirmation and further studies, including bioavailability analysis.

Plexiform neurofibroma of the cauda equina with follow-up of 10 years:A case report

BACKGROUND Plexiform neurofibromas are extremely rarely found in the region of cauda equina and can pose a significant challenge in the diagnostic and management sense.To our knowledge,only 7 cases of cauda equina neurofibromatosis(CENF)have been reported up-to-date.CASE SUMMARY We describe a case of a 55-year-old man with a 10 years history of progressive lower extremities weakness and bladder dysfunction.Before presenting,patient was misdiagnosed with idiopathic polyneuropathy.Lumbar spine MRI revealed a tortuous tumorous masses in the cauda equina region,extending through the Th12-L4 vertebrae.The patient underwent Th12-L3 Laminectomy with duraplasty.During the operation,the most enlarged electroneurographically silent nerve root was resected,anticipating inadequate decompression if nerve root was spared.The patient’s neurological condition improved post-operatively,but urinary retention became the major complaint.We provide a follow-up period of 10 years.During this time,the patient’s condition progressively worsened despite extensive decompression.The consequent MRI scans showed progressive enlargement of cauda equina roots and increasing lumbar stenosis,predominantly affecting L3-L4 segment.During the follow-up 8 years after the operation,the patient complained of worsening lower extremities sensorimotor function and neurogenic claudication.Subsequent MRI revealed lumbar spine stenosis at the level of L3-L4,requiring further decompression.The patient underwent a second surgery involving L4-L5 Laminectomy with duraplasty and L2-L5 transpedicular fixation.The post-operative period was uneventful.Latest follow-up 18 mo after the second surgery revealed substantial improvement in patient’s well-being.CONCLUSION CENF should be kept in mind during the differential diagnostic work-up for polyneuropathies.Management with an extensive decompression,duraplasty and primary spinal fixation represents a rational approach to achieve a sustained symptomatic improvement and superior overall outcome.

Multiple neurofibromas plus fibrosarcoma with familial NF1 pathogenicity:A case report

BACKGROUND Neurofibromatosis(NF)is a genetic disease consisting of seven types,of which types 1 to 4 are caused by a dominant autosomal gene mutation;such disease sometimes arises in patients with NF type 1.However,it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1,as no reports have been published on this issue.Here,we report a case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.CASE SUMMARY A 51-year-old male was admitted to our hospital due to fever accompanied by coughing,chest tightness and asthma for more than one month.The preliminary diagnosis was NF type 1,which was pathologically confirmed by a subsequent thoracoabdominal subcutaneous biopsy.The definitive diagnosis was neurofibrosarcoma with a pathogenic NF1 gene.The patient refused surgery and chemoradiotherapy,and died two months later.NF is a genetic disease consisting of seven types,of which types 1 to 4 are caused by a dominant autosomal gene mutation.The case reported belongs to the class of NF1-positive dominant inheritance.Neurofibrosarcoma is a malignant tumor derived from cells surrounding the peripheral nerves.However,due to the lack of previous reports,it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1.CONCLUSION We report the first case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.

Neurofibroma of the Pinna

Neurofibromas are relatively common lesions of the nervous system, but only a few cases involving the pinna have been reported. Isolated neurofibroma of pinna without neurofibromatosis has not been reported in the literature so far. Neurofibromas may develop anywhere in the body, including cranial and peripheral nerves. The type of impairment associated with neurofibromas depends largely on the site of the lesion. Cutaneous lesions, especially in the head and neck, generally cause deformity, whereas lesions that affect deeper systems (e.g., the auditory and ocular systems) are more likely to cause functional impairment. Usually found in individuals with neurofibromatosis, we report a case of neurofibroma of pinna in a patient without

Neurofibroma discharged from the anus with stool:A case report and review of literature

Isolated neurofibromas that affect the gastrointestinal tract are rare and almost always manifest as neurofibro-matosis type 1 or multiple endocrine neoplasia type 2 b. 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.

Multiple recurrent neurofibromas in the abdominal wall:A case report

BACKGROUND Neurofibroma can be a clinical manifestation of neurofibromatosis,which is a benign neurogenic tumor that occurs sporadically.Neurofibromas in the abdomen usually appear in the retroperitoneal space.Reports on neurofibromas in the abdominal wall are rare,and multiple recurrent neurofibromas in this area have not yet been reported.CASE SUMMARY This is a case of a 73-year-old man who suffered from multiple recurrent neurofibromas in the abdominal wall for 16 years and received 13 surgical treatments.CONCLUSION We need to pay due attention to its treatment,and primary surgery should be designed thoroughly.

Solitary Intraparotid Facial Nerve Plexiform Neurofibroma

Solitary intraparotid facial nerve plexiform neurofibromas are extremely rare. These tumors arise from Schwann cells. The plexiform variant is recognized by tortuous and multinodular gross and microscopic lesions. It has a high risk of malignant transformation. We report a case of a solitary plexiform neurofibroma in a 5-year-old Italian male, who initially presented a right parotid mass of four-month duration. He had not pain, trismus, facial weakness or previous trauma. There was not familiar history of Von Recklinghausen’s disease. TC and MRI scans revealed a mass in the superficial lobe of the parotid gland. A partial parotidectomy was performed. Histopatological examination indicated plexiform neurofibroma. The incidence, presentation, diagnosis and surgical treatment of this lesion are discussed. In our case, the tumor could be readily separated from the main trunk, and facial movement was completely preserved owing to the rich neural network around the mass.

Plexiform Neurofibroma of Nasal Tip

Neurogenic tumor is the name given to any tumor that arises from the nerve tissue or its coverings. Neurogenic tumors of Sino-nasal cavity are a very rare entity. The most common types are Schwannomas and Neurofibromas and the plexiform subtype is one form of these neuroendocrine tumors. We report the case series of two such cases of a plexiform neurofibroma of the nasal tip, which were excised via an open rhinoplasty approach.

Solitary colonic neurofibroma in a patient with transient segmental colitis: Case report

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.

A case of 25-year-old giant neurofibromatosis

In this paper,the authors presented a case report of a 39-year-old man taken to the Emergency Unit with a 25-year-old giant neurofibromatosis.Moreover,the treatment applied for this case and the physiopathology of the neurofibromatosis disease are also discussed.

腹膜后以脂肪成分为主的弥漫型神经纤维瘤1例并文献复习

目的探讨腹膜后弥漫型神经纤维瘤(DNF)的影像及病理表现。方法对1例经手术病理证实为腹膜后巨大DNF的影像学表现及病理资料进行回顾性分析,并复习相关文献。结果CT和MRI可见腹膜后以脂肪成分为主的巨大孤立性肿块,边界不清,其内散在多发团状实性成分,腹膜后大血管受压迫、包埋。实性成分在增强MRI上轻度强化,PET上代谢轻度增高。免疫组化上S-100、SOX-10均为阳性。结论DNF可发生在腹膜后,其临床和影像表现无明显特异性,确诊需要依靠病理组织学检查。

Murine neurofibroma reversion by antisense RNA for HTLV-I tax

Neurofibroma cell lines derived from mice transgenic for HTLV-I LTR tax express high levels of HTLV-I tax mRNA and protein and exhibit a transformed phenotype. A retrovirus vector carrying HTLV-I tax cDNA in reversed transcriptional orientation was stably transfected into the neurofibroma cells. Antisense RNA inhibited expression of the tax gene with a decrease of more than 40 % in both tax mRNA and protein. Tax antisense RNA reversed the transformed phenotype as exhibited by dramatic changes in cell morphology and growth characteristics. Expression of several cellular genes which are activated by Tax protein including GM-CSF, IL-6, LT/TNF, c-myc and LIF was down-regulated, while M-CSF and c-src proto-oncogene expressions were up-regulated. Accumulation of β-actin mRNA was not affected. The changes that occurred in the tax antisense expressing neurofibroma cells could be the consequence of the decreased concentration of Tax protein. These results also indicate that HTLV-I Tax protein is crucial for

Clinical characteristics and treatment of neurofibroma of the choroid

Background Neurofibroma is a kind of benign neoplasm that derives from nervous tissues. Though this tumor is the most common types in the peripheral nervous system, it is rarely seen in the choroid and easy to be misdiagnosed of choroidal melanoma. The aim of this study was to review the clinical features of neurofibroma of the choroid in the Chinese race. Methods A retrospective case series design was used. Two male and one female patients diagnosed with choroidal neurofibroma in Beijing Tongren Eye Center were included in this study. The clinical histories were abstracted from the patients＇ medical records. Routine eye examinations including visual acuity, intraocular pressure, slit lamp and ophthalmoscope were performed. Auxiliary examinations included fluorescein fundus angiography （FFA）, AB-ultrasound scan, color doppler imaging （CDI）, and magnetic resonance imaging （MRI）. Local resection of the tumors was performed and the specimens underwent pathological examinations. Results The tumors were of yellow-pink color with pigmentation on the surface. CDI showed arterial blood signals in the tumor and MRI showed high-intensity in the Tl-weighted image and a slightly increased intensity in the T2-weighted image. FFA and indocyaninegreen angiography demonstrated the tumors were of hypofluorescence at early stage and hyperfluorescence with prominent leakage at late stage. The pathological examination confirmed the tumors were choroidal neurofibroma. After 5-10-year follow-up, there were no recurrences of the tumors and the retinas were well attached. Conclusions Choroidal neurofibroma is difficult to be diagnosed clinically and pathological confirmation is important. These tumors can be managed conservatively by local resection.

头皮局限性神经纤维瘤伴脱发一例

患者,男,22岁。脱发1年余,头皮棕褐色肿物6个月。病理可见毛囊微小化,真皮下部大量细长梭形瘤细胞,波浪状排列。S-100多克隆(+),SOX-10(+),MelanA(+),Vimentin-10(+)。诊断为头皮局限性神经纤维瘤。后行手术治疗,随访中。

丛状神经纤维瘤压迫泌尿系的Ⅰ型神经纤维瘤病患儿

一例3岁男性患儿,确诊Ⅰ型神经纤维瘤病(NF1)两年。患者腹膜后、腰尾椎旁、腰骶部椎管、椎间孔等处多发神经纤维瘤。因腹膜后肿物压迫,导致患儿患有肾盂积水、输尿管扩张、神经源性膀胱等泌尿系统并发症,排尿功能受到严重影响,曾多次进行手术治疗。目前患者使用丝裂原激活细胞外信号调控激酶(MEK)抑制剂司美替尼靶向治疗,已有自主排尿,一般状态较用药前好转。该病例的诊治体现了多学科协作在罕见病诊疗过程中具有重要意义。