Myopericytomatosis of the Foot: a Case Report Including Molecular Identification of a PDGFRB Mutation

Abstract

This case report is about myopericytomatosis, a recently described rare tumor entity with only a dozen cases found in PubMed. Histologically, this tumor is characterized by diffuse infiltration of innumerable discrete myopericytoma-like nodules composed of myoid cells in a perivascular distribution. PDGFRB mutation has been linked to myopericytomatosis as well as other myopericytic tumors. The aim of this paper is to share the clinical presentation and expand the spectrum of genetic findings. We report a case of myopericytomatosis arising around the left ankle of a 73-year-old man. MRI, biopsy, and histopathology were the main diagnostic steps. Targeted next-generation sequencing was carried out to analyze the tumor sample. We performed local excision for tumor mass reduction, as wide resection was impossible a priori based on the delicate anatomical region with important structures in close proximity. Genetic analysis revealed a missense mutation of PDGFRB. PDGFRB alteration seems to play a pathogenic role in myopericytomatosis as highlighted in previously reported cases. Currently, myopericytomatosis is best treated surgically.