The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors.

Abstract

Background:

Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in preexisting benign plexiform neurofibromas (PN) and have a poor prognosis. Atypical neurofibromas (ANF) were recently described as precursor lesions for MPNST, making early detection and management of ANF a possible strategy to prevent MPNST. We aimed to clinically characterize ANF and identify management approaches.

Methods:

We analyzed clinical, imaging, and pathology findings of all patients with NF1 and ANF at 3 institutions.

Results:

Sixty-three patients had 76 ANF (32M/31F; median age 27.1 y). On MRI, most ANF appeared as distinct nodular lesions and were 18F-fluorodeoxyglucose (FDG) avid. Forty-six ANF were associated with pain, 19 with motor weakness, 45 were palpable or visible, and 13 had no clinical signs. Completely resected ANF (N = 57) have not recurred (median follow-up, 4.1 y; range, 0-14 y). Four ANF transformed into MPNST and 17 patients had a history of MPNST in a different location than was their ANF.

Conclusions:

Growth of distinct nodular lesions, pain, and FDG-PET avidity should raise concern for ANF in NF1. Patients with ANF are at greater risk for development of MPNST. Complete resection of ANF may prevent development of MPNST.

• Authors: Christine S Higham, Eva Dombi, Aljosja Rogiers, Sucharita Bhaumik, Steven Pans, Steve E J Connor, Markku Miettinen, Raf Sciot, Roberto Tirabosco, Hilde Brems, Andrea Baldwin, Eric Legius, Brigitte C Widemann, Rosalie E Ferner
• Journal: Neuro-oncology (Neuro Oncol) Vol. 20 Issue 6 Pg. 818-825 (05 18 2018) ISSN: 1523-5866 [Electronic] England
• PMID: 29409029 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Magnetic Resonance Imaging (methods)
• Male
• Middle Aged
• Neurofibroma (complications, diagnostic imaging, pathology)
• Neurofibromatosis 1 (diagnostic imaging, etiology, pathology)
• Neurofibrosarcoma (diagnostic imaging, etiology, pathology)
• Positron-Emission Tomography (methods)
• Prognosis
• Tomography, X-Ray Computed (methods)
• Young Adult