Noninvasive treatment of cutaneous neurofibromas (cNFs): Results of a randomized prospective, direct comparison of four methods.

BACKGROUND: People with Neurofibromatosis Type 1 (NF1) suffer disfigurement and pain when hundreds to thousands of cutaneous neurofibromas (cNFs) appear and grow throughout life. Surgical removal of cNFs under anesthesia is the only standard therapy, leaving surgical scars. OBJECTIVE: Effective, minimally-invasive, safe, rapid, tolerable treatment(s) of small cNFs that may prevent tumor progression. METHODS: Safety, tolerability, and efficacy of 4 different treatments were compared in 309, 2-4 mm cNFs across 19 adults with Fitzpatrick skin types (FST) I-IV: radiofrequency (RF) needle coagulation, 755 nm alexandrite laser with suction, 980 nm diode laser, and intratumoral injection of 10 mg/mL deoxycholate. Regional pain, clinical responses, tumor height and volume (by 3D photography) were assessed before, 3 and 6 months post-treatment. Biopsies were obtained electively at 3 months. RESULTS: There was no scarring or adverse events > grade 2. Each modality significantly (P < .05) reduced or cleared cNFs, with large variation between tumors and participants. Alexandrite laser and deoxycholate were fast and least painful; 980 nm laser was most painful. Growth of cNFs was not stimulated by treatment(s) based on height and volume values at 3 and 6 months compared to baseline. LIMITATIONS: Intervention was a single treatment session; dosimetry has not been optimized. CONCLUSIONS: Small cNFs can be rapidly and safely treated without surgery.

Letter to editor: Minimally invasive tubular removal of spinal schwannoma and neurofibroma - a case series of 49 patients and review of literature.

The article on "Minimally invasive tubular removal of spinal schwannoma and neurofibroma - a case series of 49 patients and review of the literature" by Dr Argiti et al. in Neurosurgical Review journal. It is based on brief study of this article and also additional points from other references which elaborate it for further research.

Minimally invasive tubular removal of spinal schwannoma and neurofibroma - a case series of 49 patients and review of the literature.

To evaluate the efficacy and safety of minimally invasive tubular removal of spinal schwannoma and neurofibroma. In this single-centre study, we retrospectively analysed 49 consecutive patients who underwent minimally invasive removal of a total of 51 benign spinal nerve sheath tumors using a non-expandable (n = 18) or expandable tubular retractor (n = 33) retractor system between June 2007 and December 2019. The extent of resection, surgical complications, neurological outcome, operative time, and estimated blood loss were recorded. Histopathology revealed 41 schwannomas and 10 neurofibromas. After a mean follow-up of 30.8 months, postoperative MRI showed gross total resection in 93.7%, and subtotal resection in 6.3% of the tumors. Three patients were lost to follow up. Of the subtotal resections, one was a schwannoma (2.4% subtotal resections in schwannomas) and two were neurofibromas (20.0% subtotal resections in neurofibromas). Intraspinal and paraspinal tumor localizations were equally accessible by minimally invasive tubular surgery. Conversion to open surgery was not required in any case. The mean operative time was 167 ± 68 min, and estimated blood loss was 138 ± 145 ml. We observed no major surgical complications. Spinal schwannoma and neurofibroma can be removed effectively and safely using a minimally invasive tubular approach, with satisfying extent of tumor resection comparable to the conventional open surgical technique and no increased risk for neurological deterioration.

Intratemporal facial nerve neurofibroma causing facial paralysis in an infant: Case report and review of the literature.

This article describes the first recorded case of intratemporal neurofibroma in an infant. A literature review of all other existing cases of intratemporal neurofibroma is performed, finding that the majority of cases involve multiple segments and can be found in the mastoid segment most often. Most common symptoms described included facial paralysis, otalgia, and conductive hearing loss, respectively.

Solitary intraosseous neurofibroma of the oral cavity: rare localization in the maxilla.

BACKGROUND: Neurofibroma is a common benign tumor of neuronal origin that can occur as a solitary tumor or as a component of the generalized syndrome of neurofibromatosis. Neurofibromas are primarily located in the subcutaneous soft tissues and commonly involve extra-oral sites. Solitary intraosseous neurofibromas of the oral cavity are infrequent, with occurrences in the maxilla being exceedingly rare. CASE PRESENTATION: A 22-year-old male patient presented with an asymptomatic mass in the maxilla. Cone-beam computed tomography revealed a round, well-outlined, radiolucent lesion with expansive growth. The neoplasm with the complete capsule was completely removed and confirmed as a neurofibroma based on histopathological and immunohistochemical findings. The reported cases of solitary intraosseous neurofibromas located in the maxilla published in the English literature were compiled to assist in the diagnosis of solitary intraosseous neurofibromas of the maxilla. Nine months after the surgery, there were no signs of tumor recurrence or malignant transformation. CONCLUSIONS: This report emphasizes that rare locations of neurofibromas, such as solitary intraosseous neurofibromas in the maxilla, typically demonstrate nonspecific clinical and radiological features. Clinicians should consider solitary intraosseous neurofibromas as possible differential diagnoses and recognize the histopathological and immunohistochemical features to confirm the correct diagnosis. A longer follow-up period is required because of the potential for local recurrence and malignant transformation of these tumors.

Giant cell granuloma and neurofibroma in the mandible of a patient with neurofibromatosis type 1: a long-term follow-up case report with radiological and surgical aspects and a review of the literature.

BACKGROUND: Magnetic resonance imaging (MRI) of the brain is frequently performed on patients with neurofibromatosis type 1 (NF1), to detect and follow-up intracranial findings. In addition, NF1-related pathologies can appear in the jaws. This case study investigates if it is advantageous to assess the depicted parts of the jaws in the imaging of NF1 patients with intracranial findings, thereby detecting jaw pathologies in their initial stages. CASE PRESENTATION: We report on the 3-year management with clinical and radiological follow-ups of a central giant cell granuloma and a neurofibroma in the mandible of a patient with NF1 who underwent examinations with brain MRIs. A review of the mandible in the patient's MRIs disclosed lesions with clear differences in progression rates. CONCLUSION: NF1-related jaw pathologies may be detected in the early stages if the depicted parts of the jaws are included in the assessment of the imaging of NF1 patients with intracranial findings. This could impact the treatment of eventual pathologies before lesion progression and further damage to the vicinity.

A Giant Scrotal Neurofibroma in a Child Masquerading as Filariasis: Uncommon Presentation of a Common Disease.

Neurofibroma of the scrotum is a very uncommon benign neoplasm, specifically when it affects teenagers and is not associated with neurofibromatosis type I. To the best of our knowledge, only a couple of cases of neurofibroma in children have been documented. Here, we report a case study of a 17-year-old boy who had a giant scrotal lump for ten years masquerading clinically as filariasis. A provisional diagnosis of benign nerve sheath neoplasm was made based on cytology findings. The lump was surgically removed from the patient, and a histopathological and immunohistochemistry examination established the diagnosis of neurofibroma. The combined clinical, preoperative cytological, histological, and immunohistochemistry findings were not presented in the literature in any of the formerly documented cases of scrotal neurofibroma. The current case expands the spectrum of differential diagnoses for scrotal tumours that clinicians have previously observed.

A Rare Case of Solitary Neurofibroma Misdiagnosed as Diabetic Foot Ulcer in the Toe Tip Region.

Neurofibromas, rare benign tumors of the peripheral nerve sheath, present diagnostic challenges, particularly in diabetic patients with toe ulcers. This case involves a 55-year-old female with type 2 diabetes mellitus who developed an enlarging ulcer on her right second toe. The initial evaluation suggested a diabetic ulcer; however, advanced imaging revealed a mass-like lesion. Partial excision and biopsy confirmed a neurofibroma with spindle cells within the myxoid stroma and S100 protein expression. One month later, total excision and Z-plasty reconstruction were performed under general anesthesia. The patient's postoperative recovery was uneventful, and the patient was discharged without complications. Follow-up revealed successful healing with no recurrence or functional issues. This case highlights the importance of considering neurofibromas in the differential diagnosis of diabetic toe ulcers to avoid misdiagnosis and ensure appropriate management.

Imaging in gynecological disease (26): clinical and ultrasound characteristics of benign retroperitoneal pelvic peripheral-nerve-sheath tumors.

OBJECTIVE: To describe the clinical and sonographic characteristics of benign, retroperitoneal, pelvic peripheral-nerve-sheath tumors (PNSTs). METHODS: This was a retrospective study of patients with a benign, retroperitoneal, pelvic PNST who had undergone preoperative ultrasound examination at a single gynecologic oncology center between 1 January 2018 and 31 August 2022. All ultrasound images, videoclips and final histological specimens of benign PNSTs were reviewed side-by-side in order to: describe the ultrasound appearance of the tumors, using the terminology of the International Ovarian Tumor Analysis (IOTA), Morphological Uterus Sonographic Assessment (MUSA) and Vulvar International Tumor Analysis (VITA) groups, following a predefined ultrasound assessment form; describe their origin in relation to nerves and pelvic anatomy; and assess the association between their ultrasound features and histotopography. A review of the literature reporting benign, retroperitoneal, pelvic PNSTs with preoperative ultrasound examination was performed. RESULTS: Five women (mean age, 53 years) with a benign, retroperitoneal, pelvic PNST were identified, four with a schwannoma and one with a neurofibroma, of which all were sporadic and solitary. All patients had good-quality ultrasound images and videoclips and final biopsy of surgically excised tumors, except one patient managed conservatively who had only a core needle biopsy. In all cases, the findings were incidental. The five PNSTs ranged in maximum diameter from 31 to 50 mm. All five PNSTs were solid, moderately vascular tumors, with non-uniform echogenicity, well-circumscribed by hyperechogenic epineurium and with no acoustic shadowing. Most of the masses were round (n = 4 (80%)), and contained small, irregular, anechoic, cystic areas (n = 3 (60%)) and hyperechogenic foci (n = 5 (100%)). In the woman with a schwannoma in whom surgery was not performed, follow-up over a 3-year period showed minimal growth (1.5 mm/year) of the mass. We also summarize the findings of 47 cases of benign retroperitoneal schwannoma and neurofibroma identified in a literature search. CONCLUSIONS: On ultrasound examination, no imaging characteristics differentiate reliably between benign schwannomas and neurofibromas. Moreover, benign PNSTs show some similar features to malignant retroperitoneal tumors. They are solid lesions with intralesional blood vessels and show degenerative changes such as cystic areas and hyperechogenic foci. Therefore, ultrasound-guided biopsy may play a pivotal role in their diagnosis. If confirmed to be benign PNSTs, these tumors can be managed conservatively, with ultrasound surveillance. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

A chance to cut is a chance to cure: complete resection of an atypical neurofibroma prevents further progression to malignancy.

Plexiform neurofibromas are the hallmark of neurofibromatosis type 1 (NF1) and significantly contribute to the overall burden of disease. While surgical excision has long been the only available therapy, the MEK inhibitor (MEKi) selumetinib has been approved as a non-surgical treatment option for these tumors in 2020 (USA) and 2021 (Europe), respectively. However, selumetinib will result in tumor shrinkage only after several months of therapy and might not prevent malignant transformation of a plexiform neurofibroma that occurs with a frequency of 10-15%. Here, we demonstrate that surgical excision might be the therapy of choice in some plexiform neurofibromas despite the availability of MEKi therapy.

Other Nerve Sheath Tumors of Brain and Spinal Cord.

The three main types of nerve sheath tumors are schwannomas, neurofibromas and perineuriomas. Multiple neurofibromas throughout the body are the hallmark of Neurofibromatosis type 1 (NF1). Spinal nerve sheath tumors are classified in the group of intradural extramedullary spinal cord tumors, in which they are the most common type (25-30%). Their incidence is 3-4 per 1 million people. Spinal schwannomas are encountered sporadically or in the context of Neurofibromatosis type 2, while neurofibromas are typical for patients with Neurofibromatosis type 1. Neurofibromas are composed predominantly of Schwann cells and fibroblasts, alongside which are also found axons, perineurial cells, mast cells and extracellular matrix. Most of the neurofibromas are asymptomatic. Any increase in the size of a neurofibroma or the presence of pain is an indicator of a possible malignant degeneration. Neurofibromas are treated surgically. Neurofibromas involve the whole nerve and cause its fusiform enlargement which makes it impossible to preserve the nerve's functions if complete tumor removal is performed. Hence, such tumors are initially observed. In case of progressive growth, the options are either resection of the tumor and immediate reconstruction with a peripheral nerve graft (e.g., nerve suralis interposition graft) or subtotal removal and follow-up. Malignant peripheral nerve sheath tumors (MPNST) are very rare tumors with incidence of around 1 per 1,000,000 people. MPNST account for 3-10% of all soft-tissue sarcomas. The most common initial symptom of MPNST is a painless mass. Any rapid increase in a subcutaneous mass or rapid onset of symptoms should raise the suspicion of a malignant tumor. In patients with diagnosed NF1, the recent rapid increase in a known lesion should raise the suspicion of malignant degeneration of the lesion and opt for active treatment. In the case of MPNST a wide surgical excision is advocated. The resectability depends greatly on the location of the tumors and varies from around 20% in paraspinal MPNST and reaches 95% in MPNST localized in the extremities. MPNST are a rare disease and should be managed by a multidisciplinary team of neurosurgeons, radiologists and oncologists.

Hybrid tumors with perineurioma components: a systematic review of the literature and illustrative case.

PURPOSE: Hybrid peripheral nerve sheath tumors (HPNST) are a newly recognized class of peripheral nerve sheath tumor, composed of at least two areas characteristic of perineurioma, schwannoma, or neurofibroma. The literature consists only of case reports and small series; therefore, we present an illustrative case and an analysis of all reported cases of HPNST with a perineurioma component in the literature. METHODS: A systematic search of the literature was performed to identify all reported cases of hybrid perineurioma-schwannoma or perineurioma-neurofibroma in the world's literature. Individual cases were analyzed for demographics, clinical features, imaging, and outcomes. RESULTS: A total of 159 cases were identified across 41 studies. Hybrid tumors tended to present in mid-adulthood (median 38.5 years), predominantly affected females (57%, 89/156), as a painless (63%, 63/100) mass, or swelling. Ten patients (10/74, 14%) had a history of neurofibromatosis 1, and 2 patients a history of neurofibromatosis 2 (2/74, 3%). The majority (78%, 122/157) of cases occurred superficially, most commonly in the lower extremity (25%, 39/157). Perineurioma-schwannoma was the most reported (86%, 137/159) pathologic diagnosis, with 3 cases presenting with malignant features. Two cases reocurred after resection. CONCLUSION: HPNST tend to occur in mid-adulthood and present as slowly progressive, painless, superficial masses, with a heterogeneous appearance on imaging. These entities pose a unique diagnostic challenge and likely remain under-recognized in the literature and current clinical practice. They pose low risk of recurrence or malignant transformation, and future work regarding the association with neurofibromatosis and genetic profiles is needed.

Rapidly expanding giant neurofibroma of the back with intratumoral hematoma: a case report and literature review.

Neurofibromatosis type I is a common genetic disease that can lead to disfigurement, neurological and functional disorders. However, it is rare to meet the case which a huge mass is formed rapidly after neurofibroma ruptures. This case report describes a rare case of a 52-year-old female with a rapidly expanding mass on her back and mild anemia as the main symptoms. Physical examination showed a huge mass on the back and a surface ulceration with the diameter of 6 cm. Imaging examination revealed the abundant blood supply to the lesion. We performed preoperative arterial embolization, and surgical resection on the fifth day after embolization. After operation, proper blood transfusion and vacuum sealing drainage (VSD) were given. Through 9-months follow-up study, the incision of the patient recovered well and there was no sign of tumor recurrence. Therefore, this case report provides clinicians with valuable experience in the treatment for rapidly expanding neurofibroma.

Extracranial hypoglossal neurofibroma with a variant ansa cervicalis: a case report.

PURPOSE: This case report aims to explore a rare combination of findings in a cadaver donor: variant ansa cervicalis, vagus (CN X) and hypoglossal (CN XII) nerve fusion, and extracranial hypoglossal neurofibroma. BACKGROUND: The type of ansa cervicalis variation presented in this report has been documented in less than 1% of described cases. The CN X-CN XII fusion has been reported in one prior study. Additionally, hypoglossal neurofibromas are benign neoplasms of the peripheral nerve sheath. There are only two known cases of extracranial hypoglossal neurofibroma described in the literature. CASE REPORT: The study investigated a swelling of the right CN XII in a 90-year-old female cadaver donor. Detailed dissection, examination of the region, and histopathological analysis of the mass followed. The entire course of CN XII and other cranial nerves were examined to exclude concurrent pathology. A fusiform enlargement of the right CN XII was observed in the submandibular region, measuring ~ 1.27 × 1.27 cm. The superior portion of the right CN XII was fused to the right CN X, exiting the jugular foramen. The superior root of ansa cervicalis, normally a branch of CN XII, was found to arise from CN X on the right side. The left CN XII and CN X were unremarkable. Histopathological examination revealed benign neurofibroma. CONCLUSION: The anatomical variation and rare location of the tumor necessitate further investigation to better understand pathogenesis, clinical correlation, and surgical implications. This study furthers knowledge of this condition and contributes to the currently limited body of research.

Successful radical surgical resection of a giant neurofibroma.

Large neurofibromas often cause significant patient morbidity and present a unique challenge to dermatologists and surgeons. Radical resection offers the lowest rate of recurrence but is not often pursued due to the high risk of intraoperative hemorrhage and difficulty in repairing large defects. Subtotal resection and debulking are more frequently performed, leading to higher rates of recurrence. This case highlights a particularly large neurofibroma and demonstrates how surgical techniques like preoperative embolization and advancement flaps can improve outcomes in the radical resection of large neurofibromas.

How to Distinguish Solitary Neurofibroma From Neurofibromatosis Type 1.

ABSTRACT: Neurofibroma is a benign tumor originating from Schwann cells. It is diagnosed as a symptom of neurofibromatosis type 1 (NF1) or solitary neurofibroma. Neurofibromatosis type 1 belongs to a class of hereditary diseases, whereas solitary neurofibroma is not. Presence of germline NF1 gene mutations can be used to distinguish the 2 conditions. However, due to false negative results in gene tests, NF1 may be misdiagnosed as solitary neurofibroma. This calls for development of more accurate diagnostic methods. The authors report 2 patients with neurofibroma who required surgery and fertility consulting. using primary cell culture and next-generation sequencing experiments, the authors found NF1 mutation in neurofibroma Schwann cells. But this mutation was not exit in peripheral blood, hence demonstrate this NF1 mutation was somatic rather than germline. These results confirmed the diagnosis of solitary neurofibroma rather than NF1. The presented method is, therefore, suitable for fertility consultation and diagnosis of solitary neurofibroma patient.

Solitary Neurofibroma of the Zygoma: Three-Dimensional Virtual Resection and Patient-Specific Polyetheretherketone Implant Reconstruction.

ABSTRACT: Intraosseous benign lesions rarely involve the zygoma, and intraosseous venous malformation is most commonly reported condition in the previous literature. A neurofibroma (NF) arising from the zygoma has not been reported before. Here, the authors present a 37-year-old female who developed solitary NF of the right zygoma. Surgical intervention is usually required for the treatment of a solitary NF. However, the complex three-dimensional (3D) anatomy of the zygoma increases the difficulty of the reconstruction for the operating surgeon. In this case, a preoperative digital surgical design was used to promote the efficiency of the surgery. A 3D printing surgical guide plate was used intraoperatively, and the defect was reconstructed by a patient-specific polyetheretherketone implant. Postoperative computed tomography imaging confirmed the accuracy of the reconstruction and that there was no recurrence of the tumor. The authors believe that the 3D print guide plate-assisted accurate resection combined with polyetheretherketone implant reconstruction is an ideal methodology for benign lesions of the zygoma.

Robotic resection of mediastinal left vagus neurofibroma.

A Correction has been published | View Neurogenic tumors represent 10 to 34% of all mediastinal tumors and among them, neurofibroma originating from the vagus nerve are rare entities. We present a case of a neurofibroma with cystic degeneration originating from the left branch of the vagus nerve in a 27-year-old man without von Recklinghausen disease. A complete robotic resection of the mediastinal mass has been performed, with amputation of the vagus nerve enclosed in the mass. The postoperative course was uneventful and the patient was discharged in two days.

Neurogenic Tumors of the Oral and Maxillofacial Region in a Nigerian Population.

BACKGROUND: Neurogenic tumors constitute a group of true and pseudo-tumors arising from tissues derived from embryonic neural crest cells. They are rare in the maxillofacial region. OBJECTIVES: To analyze the demographic, clinical presentation and histopathological spectrum of neurogenic tumors of the oral and maxillofacial region seen over a 28-year period. MATERIAL AND METHODS: A retrospective observational study which highlighted the demographic, clinical presentation and histopathological spectrum of neurogenic tumors of the oral and maxillofacial region seen between 1992 and 2020 in a tertiary health facility. RESULTS: A total of 56 patients were studied with a male to female ratio of 1:1.5 and the age spanned from 1 to 72 years (mean of 26.2 ± 17.9 yrs). The commonly involved sites were the cheek (n = 9; 16.0%), scalp (n = 9; 16.0%) and eyelid (n = 6; 10.7%). Histopathological data showed a preponderance (n = 38; 67.9%) of neurofibroma over other types of neurogenic tumors. The treatment modalities used were surgical (n = 37; 94.9%) and oncological (n = 2; 5.1%). Complications noted were recurrence in 2 patients and hypertrophic scar formation in 1 patient. CONCLUSION: In this environment, orofacial neurogenic tumors appear to be common in the second decade of life, affect the extraoral structures mainly and the most common form is neurofibroma.

CONTEXTE: Les tumeurs neurogènes constituent un groupe de tumeurs vraies et pseudo-tumorales provenant des tissus dérivés des cellules de la crête neurale embryonnaire. Elles sont rares dans la région maxillo-faciale. OBJECTIFS: Analyser la démographie, la présentation clinique et le spectre histopathologique des tumeurs neurogènes de la région orale et maxillo-faciale observées sur une période de 28 ans. MATÉRIEL ET MÉTHODES: Une étude d'observation rétrospective qui a mis en évidence la démographie, la présentation clinique et le spectre histopathologique des tumeurs neurogènes de la région orale et maxillo-faciale observées entre 1992 et 2020 dans un établissement de santé tertiaire. RÉSULTATS: 56 patients au total ont été étudiés, avec un rapport hommes/femmes de 1:1,5 et un âge compris entre 1 et 72 ans (moyenne de 26,2 ± 17,9 ans). Les sites les plus fréquemment touchés étaient la joue (n=9; 16,0%), le cuir chevelu (n=9 ; 16,0%) et la paupière (n=6 ; 10,7%). Les données histopathologiques ont montré une prépondérance (n=38 ; 67,9%) de neurofibromes par rapport aux autres types de tumeurs neurogènes. Les modalités de traitement utilisées étaient chirurgicales (n=37; 94,9%) et oncologiques (n=2; 5,1%). Les complications notées ont été la récidive chez 2 patients et la formation d'une cicatrice hypertrophique chez 1 patient. CONCLUSION: Dans cet environnement, les tumeurs neurogènes orofaciales semblent être fréquentes dans la deuxième décennie de vie, affectent principalement les structures extraorales et la forme la plus fréquente est le neurofibrome. Mots clés: Tumeur du système nerveux, Neurofibrome, Visage, région orale et maxillo-faciale.

Melanoma Arising From a Pre-existing Neurofibroma in a Patient With No Prior Diagnosis of Systemic Neurofibromatosis 1 or 2: A Case Report.

ABSTRACT: The pathophysiology of melanoma involves malignant transformation of melanocytes. These can arise de novo or result from malignant transformation of a pre-existing nevus. This case report presents a patient with a new pigmented lesion, arising from a pre-existing neurofibroma, on her left scapula and no personal or family history of systemic neurofibromatosis. Biopsy confirmed the lesion to be malignant melanoma and, after excision, postoperative pathology showed a pre-existing neurofibroma. A review of the literature suggests there may be a link between the pathogenesis of neurofibroma and malignant melanoma, because NF1 mutations are observed in both neurofibromatosis and malignant melanoma. We hypothesize that the pre-existing neurofibroma created a proliferative environment that gave rise to the adjacent neoplasm. Further research is required to understand the shared pathway, because this may lead to novel forms of surveillance and treatment.