Multiple targets, germline BRCA1 mutation and HRD in a lung cancer patient: Molecular considerations and treatment decision-making

Tumori. 2024 Dec;110(6):NP11-NP15. doi: 10.1177/03008916241257754. Epub 2024 Jun 13.

Abstract

Introduction: Several biomarkers are currently available to address targeted treatments in cancer patients, with lung malignancies representing one of the best examples.

Case description: We report the case of a patient affected by advanced non-small cell lung cancer with an uncommon histology and a complex biology. The use of a large next-generation sequencing (NGS) NGS panel allowed us to identify an extremely rare BRAF mutation (V600Q), a MET amplification, a high tumor mutational burden, a germline pathogenetic BRCA1 mutation and a homologous recombination deficiency through RAD51 assay. The treatment decision was driven by the abundance of molecular information.

Conclusions: This case highlights that an attentive and critical evaluation of molecular reports is key for the tailoring of treatment algorithms at the patient-level scale.

Keywords: BRCA mutation; HRD; RAD51; lung cancer; precision medicine.

Publication types

  • Case Reports

MeSH terms

  • BRCA1 Protein* / genetics
  • Biomarkers, Tumor / genetics
  • Carcinoma, Non-Small-Cell Lung* / genetics
  • Carcinoma, Non-Small-Cell Lung* / pathology
  • Carcinoma, Non-Small-Cell Lung* / therapy
  • Clinical Decision-Making
  • Female
  • Germ-Line Mutation*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Lung Neoplasms* / genetics
  • Lung Neoplasms* / pathology
  • Lung Neoplasms* / therapy
  • Middle Aged
  • Molecular Targeted Therapy / methods
  • Proto-Oncogene Proteins B-raf / genetics
  • Rad51 Recombinase / genetics

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • Biomarkers, Tumor
  • Proto-Oncogene Proteins B-raf
  • Rad51 Recombinase
  • BRAF protein, human