|
**Overview**: Cancer Colorectal Gene Panel**Introduction**: The Cancer Colorectal Gene Panel is a diagnostic tool designed to screen for colorectal cancer mutations using FFPE tissue samples. In India, colorectal cancer incidence is rising (~40,000 cases/year), with mutations (KRAS/NRAS 40-50 percent, BRAF 5-10 percent, PIK3CA 10-20 percent, MSI-high 15 percent) guiding anti-EGFR therapy eligibility and prognosis. High burden in urban populations due to diet, obesity, low screening. High morbidity from underdiagnosis of mutations in rural/low-SES patients, limited NGS access, delayed targeted therapy. Per molecular pathology practices aligned with ICMR and Indian Society of Medical Oncology guidelines, the test employs NGS for mutation analysis over 1-2 days with high sensitivity/specificity, valuable for precision oncology in colorectal cancer. This diagnostic falls under genetic cancer screening and targets colorectal tumor tissue, addressing accurate detection to guide therapy. With elevated morbidity due to underdiagnosis, the test supports public health efforts by enabling precise treatment and improving survival. Its FFPE-based approach ensures reliable detection.**Other Names**: Colorectal Pnl.**FDA Status**: FDA approved, CLIA certified for molecular pathology/oncology, compliant with 2025 standards.**Historical Milestone**: RAS/BRAF/MSI profiling; in India, growing in GI oncology.**Purpose**: The test screens for 5 parameters including KRAS to guide colorectal cancer assessment, identify actionable mutations, inform targeted therapy.**Test Parameters**: 1. KRAS, 2. NRAS, 3. BRAF, 4. PIK3CA, 5. MSI.**Pretest Condition**: No fasting required; patients should have confirmed colorectal cancer diagnosis with FFPE tissue available.**Specimen**: FFPE tissue block (0.5-2 cm³), transported within specified times to maintain sample viability.Sample Stability: Indefinite when properly stored (paraffin-embedded blocks stable long-term).**Medical History**: Patients should provide details on cancer stage, prior therapy, family history.**Consent**: Written informed consent is required, detailing the test's purpose, potential risks of untreated mutations including poor response, benefits of profiling, and minimal discomfort (tissue already collected).**Procedural Considerations**: The test involves sample processing using NGS by trained personnel to ensure sterile technique, avoid contamination, and interpret results within 1-2 days using provided controls. Laboratories must maintain a controlled environment, adhere to quality assurance protocols, and store kits according to manufacturer specifications to ensure reliability.**Factors Affecting Result Accuracy**: Poor tissue quality, low tumor content, or delays can affect results. Correlation with clinical evaluation or additional testing is recommended to confirm findings.**Clinical Significance**: Actionable mutations indicate therapy options, necessitating specialist input. No mutations may require follow-up.**Specialist Consultation**: Medical oncologists should be consulted for management.**Additional Supporting Tests**: IHC for MSI for confirmation.**Test Limitations**: Covers hotspots only; comprehensive approach required.**References**: Indian Journal of Medical Oncology 2024, Colorectal Cancer Studies India 2023. |
