Comprehensive Genomic Profiling Across Diverse Tumors Using the OncoIndx® Assay: Real-World Insights From an Indian Cohort
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BackgroundComprehensive genomic profiling (CGP) enables the simultaneous detection of actionable genomic alterations and predictive biomarkers across diverse malignancies.However, real-world molecular oncology data from Indian populations remain limited.This study aimed to characterize the genomic landscape of diverse solid tumors using the OncoIndx® (OneCell Diagnostics India Pvt. Ltd., Mumbai, India) CGP platform within routine Indian clinical practice. MethodsThis retrospective single-center study included patients with histologically confirmed malignancies who underwent CGP testing between June 2022 and July 2025.Genomic profiling was performed using the OncoIndx® 1080-gene next-generation sequencing (NGS) platform, with analyses focused on mutation frequency, alteration type, pathway enrichment, clinical-actionability categorization, and exploratory biomarkers including microsatellite instability (MSI), tumor mutational burden (TMB), homologous recombination deficiency (HRD), programmed death-ligand 1 (PD-L1) expression, and circulating tumor DNA (ctDNA) tumor fraction. ResultsThe cohort comprised 39 samples representing diverse solid tumors, predominantly gynecological, gastrointestinal, breast, central nervous system (CNS), and thoracic malignancies.A total of 124 genomic alterations involving 69 unique genes were identified in 33 patients, while six patients demonstrated no detectable genomic alterations.TP53 was the most frequently altered gene (43.6%),followed by PIK3CA (17.9%),ATM (10.3%), and KRAS (10.3%).Category-wise analysis demonstrated substantial clinical relevance, with Categories 1 and 2 collectively accounting for 47.6% of all detected alterations.Pathway enrichment analysis revealed predominant involvement of TP53/cell-cycle (24.2%),PI3K/AKT/mTOR (15.3%),DNA damage repair/HRD-homologous recombination repair (HRD-HRR) (12.9%), and RTK/RAS/MAPK signaling pathways (9.7%).Somatic mutation mapping demonstrated marked inter-patient molecular heterogeneity, encompassing missense mutations, amplifications, frameshift variants, splice-site alterations, and fusion events.Exploratory biomarker analysis revealed predominantly low MSI and low TMB, although isolated MSI-high, elevated TMB, and HRD-positive tumors were identified.Variable concordance between tissue biopsy-and liquid biopsy-based PD-L1 assessment further underscored underlying tumor heterogeneity. ConclusionsThis real-world Indian cohort demonstrated extensive genomic heterogeneity across diverse solid tumors, with recurrent alterations involving TP53/cell-cycle, PI3K/AKT/mTOR, DNA damage repair, and RTK/RAS/MAPK pathways.OncoIndx®-based CGP enabled the broad molecular characterization and identification of clinically relevant genomic alterations and exploratory biomarkers.These findings provide descriptive real-world molecular insights from an underrepresented Indian population and support further prospective evaluation of the clinical utility and outcome implications of CGP in Indian oncology practice.
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DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Comprehensive Genomic Profiling Across Diverse Tumors Using the OncoIndx® Assay: Real-World Insights From an Indian Cohort
- Date Crossref
- 28/08/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.
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