Un estudio pionero demuestra el impacto del perfil molecular en la evolución del cáncer

OncoDNA, a company which specialises in precision medicine for the treatment and diagnosis of cancer, has participated in a pioneering study on the usefulness and impact of molecular profiling in cancer patients. Their results have been published by Professor Ezzeldin M. Ibrahim and his team in the Annals of Clinical Oncology.

The tumour tissues of 50 highly treated adult patients with refractory metastatic cancer have been profiled. The average age was 56 years and the majority of patients were women (76%). More than half of the analysed cases were of breast, lung and ovary origin, and in 88% of the cases, at least one genetic alteration was detected with the genomic analysis of tissue biopsy.

The results of the molecular studies have guided the treatment of 58% of the patients included in the study. The average progression-free survival (PFS) was 12 months in the patients treated based on the results of the molecular profile versus 5.2 months in the patients in whom the study recommendations were not followed. In addition, the data indicate a 68% reduction in the risk of progression in the group of patients treated based on the results of the genomic study.

Prof. Dr. Ezzeldin M. Ibrahim, Director of International Medical Center said: “Very few trials reached such a high percentage of patients who were finally treated with a matched therapy (54% in our publication vs <20% in other trials).When the molecular profiling recommendations are followed, we showed a very clear impact on the evolution of cancer. One may argue than an earlier profiling combined with a matching therapy could even improve the duration of the response. In 77% of patients (21/27) having been analysed with OncoDEEP we found an actionable immunohistochemistry marker which is a clear added value of OncoDEEP versus NGS only techniques.”

Methodology

The tumour profile of the patients was performed in tissue embedded in paraffin and fixed formalin using several genomic platforms currently available in the market. The most used tool was OncoDEEP v.5, a next-generation sequencing platform (NGS) of 75 genes (which has now been expanded to 313) that combines DNA analysis and other tests such as protein expression and phosphorylation. Its objective is to provide new information about the biology of the tumour and thus be able to help the oncology specialist to find a therapy that demonstrates greater efficacy for the patient.

Case example demonstrating the potential benefit

The study includes case studies, such as that of a 56-year-old woman who had suffered breast cancer in 2008, without recurrence, and early endometrial cancer in 2010, also successfully managed. In 2017 she was discovered to have bladder cancer with lung metastases, which was treated with carboplatin without success. A profile was performed on a lung biopsy, and a BRCA2 mutation was identified. At that time, the patient began treatment with olaparib, a PARP inhibitor, with remission of 13 months.

The study concludes that genomic analyses are useful for improving the therapeutic options of cancer patients, and indicates future challenges: developing increasingly efficient platforms, more reliable biomarkers that help select appropriate candidates and finding appropriate formulas for molecular profiles with universal access.

Ref: Ezzeldin MI et al; Annals of Clinical Oncology June 2019 (dx.doi.org/10.31487/j.ACO.2019.02.04)