Sinonasal renal cell-like adenocarcinoma arising in von Hippel Lindau (VHL) syndrome

Oral Oncol. 2022 Feb:125:105705. doi: 10.1016/j.oraloncology.2021.105705. Epub 2022 Jan 5.

Abstract

Sinonasal renal cell-like adenocarcinoma (SNRCLA) is a rare and relatively novel diagnosis. Hereditary and somatic genomic signatures are not well defined in this disease. We report the case of a 35-year-old African-American male with von Hippel Lindau (VHL) syndrome who developed SNRCLA. He underwent surgical resection followed by adjuvant radiation and has no recurrence one year from diagnosis. A review of the literature yielded two similar cases in the setting of VHL. In our case with associated VHL syndrome, next generation sequencing detected MST1R mutation, a possible driver. SNRCLA is an emerging tumor associated with VHL syndrome and it is hoped that future studies shed light on the underlying biology of this unique tumor.

Keywords: Renal Cell-Like Adenocarcinoma; Sinonasal; Surgery; Von Hippel Lindau syndrome.

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Adenocarcinoma*
  • Adult
  • Humans
  • Male
  • Mutation
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics
  • von Hippel-Lindau Disease* / complications
  • von Hippel-Lindau Disease* / diagnosis
  • von Hippel-Lindau Disease* / genetics

Substances

  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human