Plexiform neurofibromas usually occur in the neck, pelvis, and extremities. Jaws and oral cavity plexiform neurofibromas have also been described. Magnetic resonance (MR) patterns for neurofibromas are typical. They include low-to-intermediate signal intensity on T1-weighted images, enhancement of the solid component of the tumor after contrast medium administration, heterogeneity on T2-weighted images, and in some cases, multiple target signs due to a collagen central area. We report MR findings of two neurofibromatosis type 1 (NF1) patients with enlarging tongue plexiform neurofibromas.
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http://dx.doi.org/10.1016/s0899-7071(01)00301-1 | DOI Listing |
Front Pharmacol
January 2025
Department of Oncology, Zibo Municipal Hospital, Zibo, ShanDong, China.
Background: Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder with limited treatment options. Selumetinib, a MEK1/2 inhibitor, has emerged as a promising therapy for inoperable NF1-related plexiform neurofibromas.
Methods: Our retrospective pharmacovigilance study utilized the FDA Adverse Event Reporting System (FAERS) to comprehensively evaluate Selumetinib's safety profile in real-world settings.
J Comp Eff Res
January 2025
Head of the 3rd Neuropsychiatric Department of the Research Clinical Institute of Childhood of the Moscow Region, Moscow, Russia.
What Is This Summary About?: Neurofibromatosis type 1 (also called NF1) is a rare genetic condition. It causes a range of symptoms that develop from childhood onwards and worsen over time. Some children with NF1 develop non-cancerous nerve tumors called plexiform neurofibromas.
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 PDFProc Natl Acad Sci U S A
January 2025
Cancer Biology & Genetics Program, Sloan Kettering Institute, New York, NY 10065.
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas and the primary cause of mortality in patients with neurofibromatosis type 1 (NF1). These malignancies develop within preexisting benign lesions called plexiform neurofibromas (PNs). PNs are solely driven by biallelic loss eliciting RAS pathway activation, and they respond favorably to MEK inhibitor therapy.
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