Genetic alterations driving metastatic colony formation are acquired outside of the primary tumour in melanoma

Nat Commun. 2018 Feb 9;9(1):595. doi: 10.1038/s41467-017-02674-y.

Abstract

Mouse models indicate that metastatic dissemination occurs extremely early; however, the timing in human cancers is unknown. We therefore determined the time point of metastatic seeding relative to tumour thickness and genomic alterations in melanoma. Here, we find that lymphatic dissemination occurs shortly after dermal invasion of the primary lesion at a median thickness of ~0.5 mm and that typical driver changes, including BRAF mutation and gained or lost regions comprising genes like MET or CDKNA2, are acquired within the lymph node at the time of colony formation. These changes define a colonisation signature that was linked to xenograft formation in immunodeficient mice and death from melanoma. Thus, melanoma cells leave primary tumours early and evolve at different sites in parallel. We propose a model of metastatic melanoma dormancy, evolution and colonisation that will inform direct monitoring of adjuvant therapy targets.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line, Tumor
  • Comparative Genomic Hybridization / methods
  • Female
  • GTP Phosphohydrolases / genetics
  • Humans
  • Lymph Nodes / metabolism
  • Lymph Nodes / pathology
  • Lymphatic Metastasis
  • Male
  • Melanoma / genetics*
  • Melanoma / pathology
  • Membrane Proteins / genetics
  • Mice, Inbred NOD
  • Mice, Knockout
  • Mice, SCID
  • Mutation*
  • Proto-Oncogene Proteins p21(ras) / genetics
  • Skin / metabolism*
  • Skin / pathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Transplantation, Heterologous

Substances

  • KRAS protein, human
  • Membrane Proteins
  • GTP Phosphohydrolases
  • NRAS protein, human
  • Proto-Oncogene Proteins p21(ras)