Neurofibromatosis type 1 with plexiform neurofibromas

Neurofibromatosis type 1 with plexiform neurofibromas refers to an autosomal dominant genetic tumor predisposition syndrome characterized by the development of complex, benign peripheral nerve sheath tumors Because they infiltrate surrounding tissues, they frequently cause severe pain, motor deficits, spinal or skeletal deformities, and airway or vascular compromise, while also harboring a lifelong risk of malignant transformation into peripheral nerve sheath tumors

Neurofibromatosis type 1 with plexiform neurofibromas refers to an autosomal dominant genetic tumor predisposition syndrome characterized by the development of complex, benign peripheral nerve sheath tumors Driven by pathogenic variants in the *NF1* gene that lead to loss of the tumor suppressor neurofibromin and hyperactivation of the RAS-MAPK signaling pathway, these tumors arise primarily from Schwann cells and expand along single or multiple nerve fascicles and branches

Neurofibromatosis type 1 with plexiform neurofibromas refers to an autosomal dominant genetic tumor predisposition syndrome characterized by the development of complex, benign peripheral nerve sheath tumors Because they infiltrate surrounding tissues, they frequently cause severe pain, motor deficits, spinal or skeletal deformities, and airway or vascular compromise, while also harboring a lifelong risk of malignant transformation into peripheral nerve sheath tumors

Driven by pathogenic variants in the *NF1* gene that lead to loss of the tumor suppressor neurofibromin and hyperactivation of the RAS-MAPK signaling pathway, these tumors arise primarily from Schwann cells and expand along single or multiple nerve fascicles and branches

Plexiform neurofibromas typically manifest in early childhood, affecting deep or superficial nerves across various anatomic sites Because they infiltrate surrounding tissues, they frequently cause severe pain, motor deficits, spinal or skeletal deformities, and airway or vascular compromise, while also harboring a lifelong risk of malignant transformation into peripheral nerve sheath tumors

Plexiform neurofibromas typically manifest in early childhood, affecting deep or superficial nerves across various anatomic sites