Variations in genes involved in dormancy associated with outcome in patients with resected colorectal liver metastases

Ann Oncol. 2015 Aug;26(8):1728-33. doi: 10.1093/annonc/mdv224. Epub 2015 May 8.

Abstract

Background: Tumor dormancy has been described as a state of hibernation. Dormancy can be switched to proliferation by different pathways, which may play a critical role in tumor recurrence. In this study, we investigated genetic variations within genes involved in tumor dormancy and their association with recurrence and outcome in patients with colorectal liver metastases (CLM) who underwent neoadjuvant bevacizumab-based chemotherapy.

Patients and methods: Genomic DNA was extracted from resected CLM (FFPE) from 149 patients. Single-nucleotide polymorphisms (SNPs) in 14 genes associated with dormancy were analyzed by direct Sanger DNA sequencing and evaluated for response, recurrence-free survival (RFS), overall survival (OS) and recurrence patterns.

Results: NME1 rs34214448 C>A was significantly associated with RFS in univariable analysis (P = 0.039) and with intrahepatic recurrence (P = 0.014). NOTCH3 rs1044009 T>C and CD44 rs8193 C>T showed a significant difference in 3-year OS rates (P = 0.004 and P = 0.042, respectively). With respect to radiological response, CD44 rs8193 C>T variant genotypes were associated with a significantly higher response rate (P = 0.033). Recursive partitioning analyses revealed that Dll4 rs12441495 C>G, NME1 rs34214448 C>A and NOTCH3 rs1044009 T>C were the dominant SNPs predicting histological response, RFS and OS, respectively.

Conclusion: Our data suggest that gene variations within genes involved in tumor dormancy pathways are associated with response and outcome in patients with resected CLM. These data may lead to new and more effective treatment strategies targeting tumor dormancy.

Keywords: bevacizumab; colorectal liver metastases; dormancy; neoadjuvant chemotherapy; single-nucleotide polymorphisms.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Aged
  • Aged, 80 and over
  • Calcium-Binding Proteins
  • Carcinoma / genetics*
  • Carcinoma / secondary
  • Carcinoma / surgery
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Databases, Factual
  • Disease-Free Survival
  • Female
  • Humans
  • Hyaluronan Receptors / genetics
  • Intercellular Signaling Peptides and Proteins / genetics
  • Liver Neoplasms / genetics*
  • Liver Neoplasms / secondary
  • Liver Neoplasms / surgery
  • Male
  • Metastasectomy
  • Middle Aged
  • NM23 Nucleoside Diphosphate Kinases / genetics
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Receptor, Notch3
  • Receptors, Notch / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • CD44 protein, human
  • Calcium-Binding Proteins
  • DLL4 protein, human
  • Hyaluronan Receptors
  • Intercellular Signaling Peptides and Proteins
  • NM23 Nucleoside Diphosphate Kinases
  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch
  • NME1 protein, human