Identification and Characterization of a Novel CCDC6::CASP7 Gene Rearrangement in an Advanced Colorectal Cancer Patient: A Case Report

Int J Mol Sci. 2024 Nov 26;25(23):12665. doi: 10.3390/ijms252312665.

Abstract

Despite the existence of effective therapy options for patients with localized colorectal cancer, advanced-stage patients have limited therapies. Genomic profiling is a promising tool for guiding treatment selection as well as patient monitoring. Here, we describe a novel gene rearrangement (CCDC6::CASP7) detected in a patient with advanced colorectal cancer that could be a therapeutic target. The patient underwent surgical resection but died after the operation from fecal peritonitis. To our knowledge, this is the first report in which the CCDC6::CASP7 gene rearrangement has been described in an advanced colorectal adenocarcinoma patient.

Keywords: CCDC6::CASP7; NGS; advanced colorectal cancer; rearrangements.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology
  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms* / pathology
  • Gene Rearrangement*
  • Humans
  • Male
  • Middle Aged