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Molecular profiling of tumours for precision oncology - high hopes versus reality.

ABSTRACT: Treatment based on molecular profiling of tumor is advertised however there are very limited clinical data supporting this approach so far. Only one, relatively small, randomized clinical trial (SHIVA) have not met its primary endpoint - prolongation of PFS. Some other unpublished series were reported during ASCO 2017 and are discussed in this review. There are many issues to be resolved before the tumor profiling will enter the clinical practice with significant benefit for patients, eg. spatial and temporal heterogeneity of tumor cells in individual patient, wide access to targeted therapies, toxicity of combined targeted therapies.

SUBMITTER: Nawrocki S

PROVIDER: S-EPMC5885080 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Molecular profiling of tumours for precision oncology - high hopes versus reality.

Nawrocki Sergiusz S

Contemporary oncology (Poznan, Poland) 20180305 1A

Treatment based on molecular profiling of tumor is advertised however there are very limited clinical data supporting this approach so far. Only one, relatively small, randomized clinical trial (SHIVA) have not met its primary endpoint - prolongation of PFS. Some other unpublished series were reported during ASCO 2017 and are discussed in this review. There are many issues to be resolved before the tumor profiling will enter the clinical practice with significant benefit for patients, eg. spatia ...[more]

PMID: 29628787

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Project description:IntroductionCompared with breast cancer (BC) in women, BC in men is a rare disease with genetic and molecular peculiarities. Therapeutic approaches for male BC (MBC) are currently extrapolated from the clinical management of female BC, although the disease does not exactly overlap in males and females. Data on specific molecular biomarkers in MBC are lacking, cutting out male patients from more appropriate therapeutic strategies. Growing evidence indicates that Next Generation Sequencing (NGS) multigene panel testing can be used for the detection of predictive molecular biomarkers, including Tumor Mutational Burden (TMB) and Microsatellite Instability (MSI).MethodsIn this study, NGS multigene gene panel sequencing, targeting 1.94 Mb of the genome at 523 cancer-relevant genes (TruSight Oncology 500, Illumina), was used to identify and characterize somatic variants, Copy Number Variations (CNVs), TMB and MSI, in 15 Formalin-Fixed Paraffin-Embedded (FFPE) male breast cancer samples.Results and discussionA total of 40 pathogenic variants were detected in 24 genes. All MBC cases harbored at least one pathogenic variant. PIK3CA was the most frequently mutated gene, with six (40.0%) MBCs harboring targetable PIK3CA alterations. CNVs analysis showed copy number gains in 22 genes. No copy number losses were found. Specifically, 13 (86.7%) MBCs showed gene copy number gains. MYC was the most frequently amplified gene with eight (53.3%) MBCs showing a median fold-changes value of 1.9 (range 1.8-3.8). A median TMB value of 4.3 (range 0.8-12.3) mut/Mb was observed, with two (13%) MBCs showing high-TMB. The median percentage of MSI was 2.4% (range 0-17.6%), with two (13%) MBCs showing high-MSI. Overall, these results indicate that NGS multigene panel sequencing can provide a comprehensive molecular tumor profiling in MBC. The identification of targetable molecular alterations in more than 70% of MBCs suggests that the NGS approach may allow for the selection of MBC patients eligible for precision/targeted therapy.

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Molecular profiling of tumours for precision oncology - high hopes versus reality.

Publications

Molecular profiling of tumours for precision oncology - high hopes versus reality.

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