It is an non-interventional retrospective observational study by using archived paraffin-embedded tumor specimens

non intervention

ACT Genomics ACT Genomics

Pei-Fang Chung

Chung

Genomic alterations have long been recognized as an important factor in tumor formation and drive tumor cell growth. However, the degree of genomic mutation (tumor mutation load, TMB) varies widely between tumors. In addition to gene mutations in tumor cells, the extent of immune cell infiltration in tumor tissues and the type and nature of immune cells (tumor microenvironment, TME) also play an important role in controlling tumor growth.

In recent years, more and more clinical studies have shown that the degree of genomic alteration (TMB) and tumor microenvironment (TME) have great potential in predicting a cancer patients' response to immunotherapy. Therefore, understanding the interaction and correlation between genomic alteration and tumor immune environment will not only deepen our understanding of tumor biology but also provide an important reference for developing immunotherapy treatment strategies for solid tumors.

This is a non-interventional, mono-centric retrospective study to be carried out in Chi Mei Medical Center (CMMC) in order to determine the association between the genomic alterations and gene expression level of immune-related genes in cancer. Samples in paraffin-embedded block of biopsies or surgical pieces (either primary tumor or metastases) will be analyzed. For each sample, clinically relevant data associated with treated cancer and needed for characterization of tumor microenvironment will be documented. No additional procedures besides those already used in the routine clinical practice will be applied to the patients. Treatment assignment will be done according to the current practice.

This trial is, through accessing to archival tumor materials, to establish the relationship between tumor mutation burden and tumor immune microenvironment for future immunotherapy strategy.

Archived paraffin-embedded tumor specimens

Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens

To explore possible relationship between genomic alteration and expression of immune-related genes in solid tumor, tumor mutation burden (TMB) and PD-1/PD-L1 expression level are examined and such relationship will be calculated by Pearson's correlation coefficient.

To establish a cancer genomic profile for the Asian population, genomic alterations such as point mutations will be assessed by NGS-based ACTOnco assay.

To establish a cancer genomic profile for the Asian population, genomic alterations such as small insertions and deletions will be assessed by NGS-based ACTOnco assay.

To establish a cancer genomic profile for the Asian population, genomic alterations such as copy number alterations will be assessed by NGS-based ACTOnco assay.

To establish a cancer genomic profile for the Asian population, genomic alterations such as microsatellite instability will be assessed by NGS-based ACTOnco assay.

To establish an expression signature of tumor microenvironment (TME) in addition to PD-1 and PD-L1, \>90 immune-related genes will be assessed by ACTTME assay via quantitative PCR

To compare between calculated tumor mutation burden values (TMB, in mutations per megabase) resulting from different methodologies, concordance between two NGS-based assays will be expressed as positive predictive value (PPV) and negative predictive value (NPV).

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens	NCT03719222	Sequence Analys...	non interventio...	-	ACT Genomics
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens	NCT03719222	Sequence Analys...	non interventio...	-	ACT Genomics
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens	NCT03719222	Sequence Analys...	non interventio...	-	ACT Genomics

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