Neurofibromas (NFs) and melanocytic nevi share a common neuroectodermal origin and may occasionally show overlapping morphological features. The objective of this study was to assess the prevalence and spectrum of melanocytic proliferation/differentiation in NFs and also to test the hypothesis whether detection of this feature could be used as a potential clue for neurofibromatosis type 1 (NF-1).
This was a retrospective study of 229 syndromic and 239 sporadic cutaneous NFs. Each case was assessed for an associated melanocytic component, both within the tumor and the overlying epidermis. Melan A immunohistochemistry was used in selected cases to further characterize this feature, particularly in diffuse NFs.
An associated melanocytic component was detected in 77/229 syndromic and 12/239 sporadic cases (P < 0.00001). This was in the form of a junctional proliferation (lentiginous melanocytic hyperplasia or junctional nevus) or dermal differentiation (diffuse spindle cell or dermal nests of pigmented epithelioid melanocytes).
Our study affirms that the spectrum of melanocytic proliferation/differentiation in NFs is broad and probably under-recognized. Awareness of this phenomenon is critical to avoid misdiagnosis of some diffuse NFs as primary melanocytic tumors, for example, desmoplastic melanomas. Given the strong link between dermal melanocytic differentiation and syndromic NFs, its detection could potentially serve as a useful clue for NF-1 in an appropriate clinical context.