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American Journal of Medical Genetics Mar 1999Plexiform neurofibromas are among the most common and debilitating complications of neurofibromatosis type 1 (NF1). They account for substantial morbidity, including... (Review)
Review
Plexiform neurofibromas are among the most common and debilitating complications of neurofibromatosis type 1 (NF1). They account for substantial morbidity, including disfigurement, functional impairment, and may even be life threatening. Plexiform neurofibromas are also subject to transformation into malignant peripheral nerve sheath tumor (MPNST), a complication that is refractory to treatment both because of a paucity of effective therapies for malignant soft tissue sarcomas in general, and because of the delay in diagnosis that results from change of a small portion of a large pre-existing tumor. The current mainstay of treatment of plexiform neurofibromas, and of MPNST for that matter, is surgical resection. The major variables are the timing and means of identification of plexiform neurofibromas, methods of follow-up, and indications for surgery. There is no established means of medical treatment, but research into the molecular pathogenesis of NF1, as well as advances in tumor therapy in general, are opening the way towards clinical trials for plexiform neurofibroma. Am. J. Med. Genet. (Semin. Med. Genet.) 89:31-37, 1999.
Topics: Humans; Magnetic Resonance Imaging; Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 10469434
DOI: 10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w -
Brain Injury May 2022As a subtype of neurofibromatosis, the plexiform neurofibroma is a benign, autosomally inherited disorder and predisposed to tumour formation. However, life-threatening... (Review)
Review
BACKGROUND
As a subtype of neurofibromatosis, the plexiform neurofibroma is a benign, autosomally inherited disorder and predisposed to tumour formation. However, life-threatening haemorrhage into facial plexiform neurofibroma is extremely rare.
CASE INFORMATION
In the current study, we showed a facial plexiform neurofibroma case with massive haemorrhage in the cranio-maxillofacial region. An emergent selective angiography of the external carotid artery was performed to identify the offending artery, which was then selectively occluded by the combination of detachable coils and Onyx-34. Thus, the minimally invasive drainage surgery was successfully performed to evacuate the haematoma.
CONCLUSION
We believe the endovascular embolization achieved its purpose by providing an initial salvage strategy for stopping active haemorrhage in plexiform neurofibroma, allowing surgeons to perform open surgery with lower complications rate.
Topics: Hematoma; Hemorrhage; Humans; Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 35604941
DOI: 10.1080/02699052.2022.2077986 -
International Journal of Oral and... Dec 2023Neurofibromas are frequently present in the skin, but are uncommon in the oral and maxillofacial region. There are three histological variants of neurofibroma:...
Neurofibromas are frequently present in the skin, but are uncommon in the oral and maxillofacial region. There are three histological variants of neurofibroma: localized, diffuse, and plexiform. The plexiform histological variant of neurofibroma is the least common and is a rare occurrence in the oral cavity. Furthermore, plexiform neurofibroma is usually pathognomonic of neurofibromatosis type 1. A case of solitary plexiform neurofibroma of the tongue with no evidence of neurofibromatosis in a 50-year-old female Chinese patient is reported here. The lesion presented as a single, large, well-circumscribed rounded mass in the left hemi-tongue. The tumour was completely excised. No recurrence was observed at the 6-month follow-up.
Topics: Female; Humans; Middle Aged; Neurofibroma, Plexiform; Neurofibromatosis 1; Neurofibroma; Tongue; Head
PubMed: 37080888
DOI: 10.1016/j.ijom.2023.03.014 -
Ophthalmic Plastic and Reconstructive...A 27-year-old woman with well-documented neurofibromatosis 2 developed a soft, painless, nodular lesion on the skin surface of the left upper eyelid over 2 years....
A 27-year-old woman with well-documented neurofibromatosis 2 developed a soft, painless, nodular lesion on the skin surface of the left upper eyelid over 2 years. Following excision, histopathology revealed a plexiform neurofibroma with intradermal nodules comprised of benign round and spindle cells that reacted diffusely with immunohistochemical stains SOX-10 and S100. A subset showed focal reactivity for neurofilament and CD34. A perineurium surrounded each nodule with cells staining positively for markers EMA (epithelial membrane antigen) and GLUT1 (glucose transporter 1). Plexiform neurofibromas are rare tumors that occur in 5%-15% of patients with neurofibromatosis 1. Cutaneous abnormalities in neurofibromatosis 2 have not been widely studied although reports have described schwannomas, plexiform schwannomas, and occasional neurofibromas. Plexiform neurofibromas in neurofibromatosis 2 have rarely been illustrated and the current case represents a unique bona fide eyelid example to date.
Topics: Female; Humans; Adult; Neurofibroma, Plexiform; Neurofibromatosis 2; Neurofibromatosis 1; Neurilemmoma; Eyelids; Neurofibroma
PubMed: 37338324
DOI: 10.1097/IOP.0000000000002432 -
Stem Cell Research Dec 2020Plexiform neurofibromas (pNFs) are benign tumors of the peripheral nervous system (PNS) that can progress towards a deadly soft tissue sarcoma termed malignant... (Review)
Review
Plexiform neurofibromas (pNFs) are benign tumors of the peripheral nervous system (PNS) that can progress towards a deadly soft tissue sarcoma termed malignant peripheral nerve sheath tumor (MPNST). pNFs appear during development in the context of the genetic disease Neurofibromatosis type 1 (NF1) due to the complete loss of the NF1 tumor suppressor gene in a cell of the neural crest (NC) - Schwann cell (SC) axis of differentiation. NF1(-/-) cells from pNFs can be reprogrammed into induced pluripotent stem cells (iPSCs) that exhibit an increased proliferation rate and maintain full iPSC properties. Efficient protocols for iPSC differentiation towards NC and SC exist and thus NC cells can be efficiently obtained from NF1(-/-) iPSCs and further differentiated towards SCs. In this review, we will focus on the iPSC modeling of pNFs, including the reprogramming of primary pNF-derived cells, the properties of pNF-derived iPSCs, the capacity to differentiate towards the NC-SC lineage, and how well iPSC-derived NF1(-/-) SC spheroids recapitulate pNF-derived primary SCs. The potential uses of NF1(-/-) iPSCs in pNF modeling and a future outlook are discussed.
Topics: Genes, Tumor Suppressor; Humans; Neurofibroma, Plexiform; Neurofibromatosis 1; Schwann Cells
PubMed: 33160273
DOI: 10.1016/j.scr.2020.102068 -
The American Journal of Dermatopathology Jun 1994We report the clinical, histopathologic, and immunohistopathologic features of two cases of plexiform schwannoma. This rare benign tumor is worthy of recognition because... (Review)
Review
We report the clinical, histopathologic, and immunohistopathologic features of two cases of plexiform schwannoma. This rare benign tumor is worthy of recognition because it can be misdiagnosed as plexiform neurofibroma. Differentiation from plexiform neurofibroma is important because the latter is pathognomonic of von Recklinghausen disease and carries a significant risk of malignant transformation. Plexiform schwannoma is, in contrast, not necessarily associated with von Recklinghausen disease and malignant transformation has never been observed.
Topics: Adult; Diagnosis, Differential; Female; Humans; Male; Neurilemmoma; Neurofibroma, Plexiform; Skin Neoplasms
PubMed: 7943637
DOI: 10.1097/00000372-199406000-00011 -
The Journal of Laryngology and Otology Jan 2002A case of a female child of six years of age with a plexiform neurofibroma of the larynx caused by von Recklinghausen's disease is presented. Laryngeal involvement in... (Review)
Review
A case of a female child of six years of age with a plexiform neurofibroma of the larynx caused by von Recklinghausen's disease is presented. Laryngeal involvement in neurofibromatosis type 1 (NF1) is rare and only 19 paediatric cases have been reported. The tumour was biopsied and lateral pharyngotomy with supraglottic hemilaryngectomy was performed in order to relieve obstructive symptoms. Problems related to this unusual tumour localization are discussed and a review of the literature is presented.
Topics: Child; Female; Humans; Laryngeal Neoplasms; Magnetic Resonance Imaging; Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 11860654
DOI: 10.1258/0022215021910122 -
BMJ Case Reports Oct 2013A middle-aged Chinese woman presented with a slowly enlarging mass over the right side of her face that was later proven histologically to be a plexiform neurofibroma.... (Review)
Review
A middle-aged Chinese woman presented with a slowly enlarging mass over the right side of her face that was later proven histologically to be a plexiform neurofibroma. This was associated with a localised depression over her right temple. There were no other features of neurofibromatosis-1. The presentation and biological behaviour of plexiform neurofibromas are reviewed in this manuscript. Particular attention is paid to the interaction of plexiform neurofibromas with their surrounding structures, as well as the postulated mechanisms by which this occurs.
Topics: Diagnosis, Differential; Diagnostic Imaging; Facial Neoplasms; Female; Humans; Middle Aged; Neurofibroma, Plexiform
PubMed: 24099762
DOI: 10.1136/bcr-2013-200716 -
Ophthalmic Plastic and Reconstructive...Plexiform neurofibromas are classically thought to be pathognomonic for neurofibromatosis type 1. However, isolated forms may occur, particularly as a manifestation of...
Plexiform neurofibromas are classically thought to be pathognomonic for neurofibromatosis type 1. However, isolated forms may occur, particularly as a manifestation of segmental neurofibromatosis related to postzygotic mosaicism in the NF1 gene. Most cases occur on the head and neck, trunk, and extremities with very few cases reported in the periorbital area. The authors report a case of plexiform neurofibroma with perineuriomatous features of the right upper eyelid in a patient with no other stigmata of neurofibromatosis. While suggestive of segmental neurofibromatosis, genetic analysis revealed activating KRAS mutation and inactivating mutation in PHF6 with no evidence of NF1 mutation in germline or tumor tissue. Neither KRAS nor PHF6 have been previously reported in association with neurofibroma.
Topics: Eyelids; Humans; Mutation; Neurofibroma; Neurofibroma, Plexiform; Neurofibromatoses; Neurofibromatosis 1; Proto-Oncogene Proteins p21(ras)
PubMed: 35797671
DOI: 10.1097/IOP.0000000000002147 -
Urology Aug 2023Intrascrotal neurofibromas are extensive tumors that grow from peripheral nerves within the scrotum and are exceedingly rare among the benign extratesticular tumors....
Intrascrotal neurofibromas are extensive tumors that grow from peripheral nerves within the scrotum and are exceedingly rare among the benign extratesticular tumors. Though the risk is low, potential for malignancy and patient discomfort make diagnosis and surgical evaluation imperative. Pediatric neurofibromas are typically only associated with neurofibromatosis type 1. However, herein, we describe a rare case of a benign, intrascrotal plexiform neurofibroma in a 10-year-old male who lacks any stigmata associated with this genetic disorder. Diagnostic and surgical challenges as well as histopathological findings are discussed.
Topics: Male; Humans; Child; Neurofibroma, Plexiform; Neurofibroma; Neurofibromatosis 1; Peripheral Nerves; Scrotum
PubMed: 37121356
DOI: 10.1016/j.urology.2023.04.015