Evolutionary predictability of genetic versus nongenetic resistance to anticancer drugs in melanoma

Cancer Cell. 2021 Aug 9;39(8):1135-1149.e8. doi: 10.1016/j.ccell.2021.05.015. Epub 2021 Jun 17.

Abstract

Therapy resistance arises from heterogeneous drug-tolerant persister cells or minimal residual disease (MRD) through genetic and nongenetic mechanisms. A key question is whether specific molecular features of the MRD ecosystem determine which of these two distinct trajectories will eventually prevail. We show that, in melanoma exposed to mitogen-activated protein kinase therapeutics, emergence of a transient neural crest stem cell (NCSC) population in MRD concurs with the development of nongenetic resistance. This increase relies on a glial cell line-derived neurotrophic factor-dependent signaling cascade, which activates the AKT survival pathway in a focal adhesion kinase (FAK)-dependent manner. Ablation of the NCSC population through FAK inhibition delays relapse in patient-derived tumor xenografts. Strikingly, all tumors that ultimately escape this treatment exhibit resistance-conferring genetic alterations and increased sensitivity to extracellular signal-regulated kinase inhibition. These findings identify an approach that abrogates the nongenetic resistance trajectory in melanoma and demonstrate that the cellular composition of MRD deterministically imposes distinct drug resistance evolutionary paths.

Keywords: FAK signaling; cutaneous melanoma; minimal residual disease; neural crest stem cells; nongenetic reprogramming; patient-derived tumor xenografts; single-cell sequencing; therapy resistance.

Publication types

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

MeSH terms

  • Animals
  • Antineoplastic Agents / pharmacology*
  • Cell Line, Tumor
  • Drug Resistance, Neoplasm / drug effects
  • Drug Resistance, Neoplasm / genetics
  • Drug Resistance, Neoplasm / physiology*
  • Female
  • Focal Adhesion Kinase 1 / antagonists & inhibitors
  • Focal Adhesion Kinase 1 / metabolism
  • Gene Expression Regulation, Neoplastic / drug effects
  • Glial Cell Line-Derived Neurotrophic Factor / metabolism
  • Humans
  • Imidazoles / pharmacology
  • Melanoma / drug therapy*
  • Melanoma / genetics*
  • Melanoma / pathology
  • Mice
  • Mice, SCID
  • Mitogen-Activated Protein Kinase Kinases / antagonists & inhibitors
  • Neoplasm Recurrence, Local / genetics
  • Neoplastic Stem Cells / drug effects
  • Neoplastic Stem Cells / pathology
  • Neural Crest / pathology
  • Oximes / pharmacology
  • Protein Kinase Inhibitors / pharmacology
  • Proto-Oncogene Proteins B-raf / antagonists & inhibitors
  • Proto-Oncogene Proteins B-raf / genetics
  • Pyridones / pharmacology
  • Pyrimidinones / pharmacology
  • Xenograft Model Antitumor Assays

Substances

  • Antineoplastic Agents
  • Glial Cell Line-Derived Neurotrophic Factor
  • Imidazoles
  • Oximes
  • Protein Kinase Inhibitors
  • Pyridones
  • Pyrimidinones
  • trametinib
  • Focal Adhesion Kinase 1
  • PTK2 protein, human
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Mitogen-Activated Protein Kinase Kinases
  • dabrafenib