Melanotic PEComa of the sinonasal mucosa with NONO-TFE3 fusion an elusive mimic of sinonasal melanoma

Stephanie M. McGregor*, Mir B. Alikhan, Rahel A. John, Howard Kotler, Julia A. Bridge, Ibro Mujacic, Sabah Kadri, Jeremy Segal, Thomas Krausz

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal tumors with features of both smooth muscle and melanocytic differentiation, with or without true melanin pigment. The highly variable morphology of PEComas results in a broad differential diagnosis that is also dependent on anatomic site. A subset demonstrates rearrangements involving the TFE3 (Xp11) locus, which can be used in diagnostically difficult cases. Here we describe a case of a melanotic PEComa with NONO-TFE3 fusion occurring in the sinonasal mucosa, as demonstrated by both next-generation sequencing and molecular cytogenetic studies. This case is the first of its kind in the literature and only the second documented PEComa harboring a NONO-TFE3 rearrangement. In light of unequivocal molecular ancillary studies, this case illustrates that PEComa must enter the differential for pigmented lesions of the sinonasal mucosa, where malignant melanoma would be much more likely to occur.

Original languageEnglish (US)
Pages (from-to)717-722
Number of pages6
JournalAmerican Journal of Surgical Pathology
Volume41
Issue number5
DOIs
StatePublished - Jan 1 2017

Keywords

  • Melanoma
  • PECOMA
  • TFE3

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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