NCI Definition: An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. [1]

Neurofibromas most frequently harbor alterations in NF1, ERBB2, CDKN2A, TP53, and PRKDC [2].

Most Commonly Altered Genes in Neurofibroma

NF1 Mutation, NF1 Nonsense, ERBB2 Mutation, NF1fs, and ERBB2 V777L are the most common alterations in neurofibroma [2].

Top Alterations in Neurofibroma

Significant Genes in Neurofibroma


NF1 +

Disease Details

NEUROFIBROMA, BENIGN, Neurofibroma (WHO Grade I), Soft tissue neurofibroma
Peripheral Nervous System Neoplasm
Plexiform Neurofibroma, Cardiac Neurofibroma, Gallbladder Neurofibroma, Spinal Cord Neurofibroma, Mediastinal Neurofibroma, Pacinian Neurofibroma, Atypical Neurofibroma, Cellular Neurofibroma, Esophageal Neurofibroma, and Epithelioid Neurofibroma
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1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.