Ectomesenchymal chondromyxoid tumor of the oral cavity: a report of 5 new cases with comprehensive review of the literature and clinicohistopathologic features

Abstract

An ectomesenchymal chondromyxoid tumor (ECT) is an uncommon soft tissue tumor with an enigmatic histogenesis and striking predilection for the tongue. We present 5 new cases and review the literature. We performed a retrospective search for ECTs within the University of Kentucky Oral Pathology Biopsy Service and the published literature. Five new cases from the biopsy archives and 103 well-documented ECT cases from the literature were compiled and reviewed. Whereas 89.8% of ECT are found on the anterior/dorsal/lateral/unspecified tongue, 4.6% are on the posterior/base of tongue. Six extralingual cases are reported. The age ranges from 2.3 to 78 years with an average of 40. Most ECT react with GFAP (92.8%) and S-100 protein (91.3%). Whereas 21/23 cases demonstrated a RREB1-MKL2 fusion, EWSR1 gene mutations are identified in 4 cases. Most ECT are readily diagnosed on routine histopathology in combination with tumor site, immunohistochemical findings, and molecular findings; however, a subset share overlapping features with myoepithelioma of soft parts. As further molecular analysis is performed on this tumor, we may find that a subset of previously diagnosed ECT relate to or represent myoepithelioma or conversely fall under the spectrum of the pluripotent ECT.