Malignant melanotic nerve sheath tumor (MMNST) represents a highly aggressive neoplasm arising both in peripheral and cranial nerves. It accounts for < 1% of all nerve sheath tumors, but the real incidence may not be well defined yet because of the evolution of its nomenclature. To date, it is considered a distinct tumor type, no longer as the pigmented variant of schwannoma, with a different clinical course and biological behavior. MMNSTs exhibit a specific genetic hallmark related to the PRKAR1A gene, which explains the major incidence in Carney Complex-affected patients. One of the more frequent localizations is the paravertebral region, where it poses diagnostic concerns with both primary tumors arising from soft tissues and the meningeal covering, as well as metastatic ones (ie, melanoma). Herein we present a patient with an MMNST accompanied by the main clinical, radiological, histopathological, and molecular findings, stressing the need for a multidisciplinary diagnostic approach. To the best of our knowledge, this is the first report of proton beam therapy for MMNST. We also performed a literature review to collect and compare the more recent data in English literature and to highlight the “keep-in-mind” concepts to apply in a multidisciplinary diagnostic algorithm, with a focus on histopathology and related pitfalls.
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