Plexiform neurofibroma is a rare variant of neurofibromatosis type 1. Diagnosis is challenging due to the highly variable clinical presentation. Early diagnosis is essential for appropriate treatment and prevention of complications. This report describes a sporadic solitary plexiform neurofibroma in the temporal region of a seven-year-old girl. The growth of the mass began at birth and grew steadily over five years. Subsequently, the mass began to expand rapidly. The patient underwent complete surgical resection under general anesthesia. Histopathological examination revealed a plexiform neurofibroma. In conclusion, surgical excision is the gold standard for cases with symptomatic, visible, large superficial lesions.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11189655 | PMC |
http://dx.doi.org/10.7759/cureus.60798 | DOI Listing |
Chirurgie (Heidelb)
January 2025
Universitätsklinik für Plastische, Rekonstruktive und Ästhetische Chirurgie, Medizinische Universität Wien, Wien, Österreich.
Neurofibromatosis type 1 (NF1, formerly Recklinghausen's disease) is a genetic tumor predisposition syndrome in which the mutation of a tumor suppressor gene (neurofibromin) leads to the development of mostly benign neurofibromas of the skin and the central and peripheral nervous systems and malformations or tumors of other organ systems. Patients with NF1 should receive lifelong interdisciplinary care in specialized centers and important treatment decisions should be made by a regularly meeting interdisciplinary panel of experts. Plastic surgery plays an important role in the multidisciplinary management of all clinical forms of NF1-associated peripheral nerve sheath tumors, from cutaneous and subcutaneous to deep nodular and diffuse plexiform neurofibromas.
View Article and Find Full Text PDFCancers (Basel)
January 2025
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, 9030 Old Georgetown Road, Bethesda, MD 20892-8200, USA.
Background: Oral therapeutic options for plexiform neurofibromas (PNs) in individuals with neurofibromatosis type 1 (NF1) are receiving attention in clinical research. The MEK inhibitor (MEKi) Selumetinib is FDA-approved in children ages 2+ years with inoperable PNs, and shows activity in adults. Prolonged therapy with selumetinib is necessary to maintain tumor reduction.
View Article and Find Full Text PDFNeuro Oncol
January 2025
Department of Neurosurgery, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg.
Background: Peripheral nerve sheath tumors (PNSTs) encompass entities with different cellular differentiation and degrees of malignancy. Spatial heterogeneity complicates diagnosis and grading of PNSTs in some cases. In malignant PNST (MPNST) for example, single cell sequencing data has shown dissimilar differentiation states of tumor cells.
View Article and Find Full Text PDFCancer Res Commun
January 2025
University of British Columbia, Vancouver, BC, Canada.
NF1 encodes the multifunctional tumour suppressor protein, neurofibromin, which is best known for its causative role in Neurofibromatosis type 1 and in regulating MAPK signaling. Neurofibromin, in a context-specific manner, is involved in various tumorigenic processes, including those in melanocytes. This study investigated whether NF1 loss can collaborate with oncogenic GNAQ to promote melanoma in the dermis or eyes, where the G alpha q pathway is almost always activated.
View Article and Find Full Text PDFCancers (Basel)
January 2025
Sophia, Department of General Pediatrics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
Background: Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!