Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer

PLoS One. 2020 Sep 30;15(9):e0239686. doi: 10.1371/journal.pone.0239686. eCollection 2020.

Abstract

Introduction: A significant proportion of patients with metastatic castration-resistant prostate cancer (mCRPC) harbor mutations in homologous recombination (HR) repair genes, with some of these mutations associating with increased tumor susceptibility to poly(ADP-ribose) polymerase (PARP) inhibitors and platinum-based chemotherapy. While mutations in some HR repair genes (e.g., BRCA1/2) have been associated with a more aggressive clinical course, prior studies correlating HR mutational status with treatment response to androgen receptor (AR) signaling inhibitors (ARSIs) or taxane-based chemotherapy have yielded conflicting results.

Methods: We conducted a single-center retrospective analysis to assess clinical outcomes to conventional, regulatory-approved therapies in mCRPC patients with somatic (monoallelic and biallelic) and/or germline HR repair mutations compared to patients without alterations as determined by clinical-grade next-generation sequencing assays. The primary endpoint was PSA30/PSA50 response, defined as ≥30%/≥50% prostate-specific antigen (PSA) reduction from baseline. Secondary endpoints of PSA progression-free survival (pPFS) and clinical/radiographic progression-free survival (crPFS) were estimated using Kaplan-Meier methods.

Results: A total of 90 consecutively selected patients were included in this analysis, of which 33 (37%) were identified to have HR repair gene mutations. Age, race, Gleason score, prior surgery, and receipt of prior radiation therapy were comparable between carriers and non-carriers. There was no evidence that PSA30/PSA50 differed by HR gene mutational status. Median pPFS and crPFS ranged 3-14 months across treatment modalities, but there was no evidence either differed by HR gene mutational status (all p>0.05). There was also no difference in outcomes between those with BRCA2 or PALB2 mutations (n = 17) compared to those without HR repair mutations.

Conclusion: HR gene mutational status was associated with comparable clinical outcomes following treatment with ARSIs or taxane-based chemotherapy. Additional prospective studies are needed to confirm these findings.

Publication types

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

MeSH terms

  • Aged
  • Antineoplastic Agents / therapeutic use
  • Ataxia Telangiectasia Mutated Proteins / genetics
  • BRCA2 Protein / genetics
  • Cyclin-Dependent Kinases / genetics
  • Drug Resistance, Neoplasm
  • Fanconi Anemia Complementation Group N Protein / genetics
  • Humans
  • MRE11 Homologue Protein / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Metastasis
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use
  • Progression-Free Survival
  • Prostatic Neoplasms, Castration-Resistant / drug therapy
  • Prostatic Neoplasms, Castration-Resistant / genetics*
  • Prostatic Neoplasms, Castration-Resistant / pathology
  • Recombinational DNA Repair / genetics*
  • Steroid Synthesis Inhibitors / therapeutic use

Substances

  • Antineoplastic Agents
  • BRCA2 Protein
  • BRCA2 protein, human
  • Fanconi Anemia Complementation Group N Protein
  • MRE11 protein, human
  • PALB2 protein, human
  • Poly(ADP-ribose) Polymerase Inhibitors
  • Steroid Synthesis Inhibitors
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • CDK12 protein, human
  • Cyclin-Dependent Kinases
  • MRE11 Homologue Protein