• Involvement of Cranial Nerve Ganglion as an Independent Risk Factor for Malignant Transformation of Head and Neck Plexiform Neurofibromas in Neurofibromatosis Type 1
• Qualitative aspects of pain in children and adults with neurofibromatosis type 1 and plexiform neurofibromas: Causes, consequences, and communication
• Malignant peripheral nerve sheath tumor in early childhood: a case report of a diagnostic challenge
• Comment on: "selumetinib use as targeted therapy for plexiform neurofibroma: a comprehensive review of the literature" - mirdametinib as the emerging standard in NF1-PN
• Buttock Reconstruction With Hatchet-type Lumbosacral Flap After Resecting Diffuse Plexiform Neurofibroma With Methicillin Resistant Staphylococcus aureus-infected Intratumoral Hematoma
• Single-cell tumor microenvironment profiling informs a circulating proteome test for the interception of malignant transformation in NF1 nerve sheath tumors
• Plexiform Schwannoma of the Foot: A Case Report
• A clinical case of type 1 neurofibromatosis associated with a rare genotype

Plexiform neurofibroma is a benign nerve sheath tumor arising from multiple nerve fascicles and their branches, typically associated with Neurofibromatosis Type 1 (NF1).

Histology: Composed of Schwann cells, fibroblasts, and perineural cells, interwoven within a myxoid stroma.

Growth Pattern: Diffuse, infiltrative, and often entwined within nerve plexuses, hence the term plexiform.

Location: Can involve any part of the body but commonly affects the head, neck, or extremities.

Clinical Presentation: Presents as a soft, often painless mass with a “bag of worms” texture on palpation.

Risk of Malignancy: Has a significant risk (~10–15%) of malignant transformation into a malignant peripheral nerve sheath tumor (MPNST), particularly in NF1 patients.

Diagnosis: Often diagnosed clinically and confirmed with MRI and histopathology.

Management: Surgical resection is challenging due to its infiltrative nature; newer treatments include MEK inhibitors (e.g., selumetinib) for inoperable cases.

Uncommon variant of neurofibroma.

Plexiform neurofibromas (PNFs) are complex peripheral nerve sheath tumors that are virtually pathognomonic for neurofibromatosis type 1 (NF1). They originate from multiple nerve fascicles and extend along the length of nerves, often involving surrounding tissues. Classification systems are used for diagnostic, prognostic, and therapeutic planning purposes.

• Superficial (cutaneous) PNF:
  • Involves dermal or subcutaneous tissues.
  • Usually visible or palpable as soft masses.
  • Lower risk of malignant transformation.

• Deep (internal) PNF:
  • Involves deeper nerve trunks (e.g., brachial plexus, sacral plexus).
  • Often infiltrative and extensive.
  • Higher risk of complications and malignant transformation.
  • May affect visceral organs or spinal roots.

• Fusiform:
  • Focal, spindle-shaped tumor along a nerve.
  • Often easier to resect.

• Nodular:
  • Discrete nodules along peripheral nerves.
  • May be multiple.

• Diffuse infiltrative:
  • Ill-defined, infiltrative mass with indistinct margins.
  • Often extends along large nerve segments and into surrounding tissues.
  • Common in the head and neck region. see Head and Neck Plexiform Neurofibroma

• Asymptomatic PNF:
  • Detected incidentally.
  • Observation typically sufficient.

• Symptomatic non-disfiguring PNF:
  • Causes pain, functional impairment, or neurological deficits.
  • Consider surgery or medical therapy.

• Symptomatic disfiguring PNF:
  • Causes visible deformity and/or disfigurement.
  • May require multidisciplinary management.

• Low-risk PNF:
  • Small, superficial, asymptomatic.
  • Stable in size over time.

• High-risk PNF:
  • Large, deep, growing, painful, or affecting critical structures.
  • Associated with increased risk of malignant peripheral nerve sheath tumor (MPNST).

• Plexiform neurofibroma is classified under:
  • Benign peripheral nerve sheath tumors (BPNSTs).
  • WHO Grade: benign, non-encapsulated.
  • Risk of malignant transformation (10-15% in NF1 patients).

• Some NF1 mutations (e.g., whole-gene deletions) are associated with:
  • Earlier onset.
  • Larger burden of PNFs.
  • Higher malignancy risk.

Plexiform neurofibromas usually presents with symptoms due to large size and site ¹⁾.

• Regular MRI surveillance every 6–24 months based on clinical course.
• Surgical debulking may relieve symptoms but complete resection is often not feasible.
• Selumetinib (a MEK inhibitor) is approved for symptomatic, inoperable PNFs in children with NF1 — tumor shrinkage in ~70%.
• Requires a multidisciplinary approach: neurology, neurosurgery, oncology, plastic surgery, and rehabilitation as needed.

Plexiform neurofibroma treatment

Plexiform neurofibroma prognosis.