Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report

BMC Cancer. 2018 Sep 12;18(1):889. doi: 10.1186/s12885-018-4789-4.

Abstract

Background: We report on a female patient who underwent primary radical resection for a stage 2B Her-2-positive Barrett's-type esophageal adenocarcinoma (EAC). Despite Her-2 targeted therapy, her disease recurred and required repeated metastectomies.

Case presentation: Digital cell sorting and targeted sequencing of cancer sub-clones from EAC and metastases revealed a completely mutated TP53, whereas the sorted stromal cells were wild-type. Her-2 amplification was significantly lower in the metastases when the patient became therapy-resistant.

Conclusions: The mechanism of therapy resistance illustrated by this case could only be detected through accurate analysis of tumor sub-populations. Investigating tumor sub-populations of recurrent disease is important for adjusting therapy in recurrent EAC.

Keywords: Digital cell sorting; Esophageal adenocarcinoma; Next generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / diagnosis*
  • Adenocarcinoma / drug therapy
  • Adenocarcinoma / genetics*
  • Biomarkers, Tumor
  • Biopsy
  • Clonal Evolution / genetics*
  • Esophageal Neoplasms / diagnosis*
  • Esophageal Neoplasms / drug therapy
  • Esophageal Neoplasms / genetics*
  • Female
  • Genomics* / methods
  • Humans
  • Immunohistochemistry
  • Mutation
  • Neoplasm Metastasis
  • Neoplasm Staging
  • Polymorphism, Single Nucleotide
  • Receptor, ErbB-2 / genetics
  • Whole Genome Sequencing*

Substances

  • Biomarkers, Tumor
  • Receptor, ErbB-2

Supplementary concepts

  • Adenocarcinoma Of Esophagus