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

Author:

Perrone Fabiana1ORCID,Facchinetti Francesco2,Pellegrino Benedetta1,Minari Roberta1,Gnetti Letizia3ORCID,Azzoni Cinzia3,Bottarelli Lorena3,Campanini Nicoletta3,Grau-Bejar Juan Francisco4,Mingozzi Anna15,Cognigni Valeria6ORCID,Tiseo Marcello15

Affiliation:

1. Medical Oncology Unit, University Hospital of Parma, Parma, Italy

2. Lowe Center for Thoracic Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA

3. Pathology Unit, University Hospital of Parma, Parma, Italy

4. INSERM UMR981, Gustave Roussy Institute, Villejuif, France

5. Department of Medicine and Surgery, University of Parma, Parma, Italy

6. Oncology Clinic, Polytechnic University of Marche, United Hospitals of Ancona, Ancona, Italy

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.

Publisher

SAGE Publications

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