{ "metadata": { "name": "MR. ADITYA PRAKASH", "cr_no": "394547", "age_sex": "56Y/Male", "referred_doctor": "Dr. ULLAS BATRA", "sample_type": "Tumor Tissue (FFPE block) –SB-5326/26 [Outside block]", "diagnosis": "Lung Adenocarcinoma", "tumor_fraction": "~30%", "order_no": "", "order_date": "05-08-2026", "receiving_date": "07-08-2026", "reporting_date": "26.08.2026", "lab_id": "2026217-1455" }, "report_information": { "panel_title": "NGS SMART Lung Panel" }, "clinical_content": { "sections": [ { "heading": "Report Highlights", "order": 1, "content": "Alteration detected", "page": 1, "source_lines": [ 59 ], "children": [ { "kind": "list_item", "content": "EGFR Exon 19 deletion", "page": 1, "order": 2 }, { "kind": "list_item", "content": "TP53 p.(Leu206Tyrfs*3)", "page": 1, "order": 3 }, { "heading": "DNA Sequence Variants", "order": 4, "page": 1, "source_lines": [ 63 ], "children": [ { "kind": "table", "headers": [ "Gene", "Transcript", "Genomic Locus", "Coding DNA change", "Amino Acid Change", "Variant Allele Frequency (%)", "Variant Type", "Clinical Significance" ], "rows": [ [ "EGFR", "NM_005228.5", "chr7:55242464", "c.2235_2249del GGAATTAAGAGAAGC", "p.(Glu746_Ala750del)", "50.49", "In- frame Deletion", "Strong clinical significance" ], [ "TP53", "NM_000546.6", "chr17:7578232", "c.616_617insA", "p.(Leu206Tyrfs*3)", "51.01", "Frameshift Insertion", "Strong clinical significance" ] ], "order": 5 }, { "heading": "Genomic Assembly", "order": 6, "content": "GrCH 37(hg19)", "page": 1, "source_lines": [ 101 ] } ] }, { "heading": "Clinical Significance", "order": 7, "page": 1, "source_lines": [ 52 ], "children": [ { "heading": "Variant:EGFR Exon 19 deletion", "order": 8, "page": 1, "source_lines": [ 103 ], "children": [ { "heading": "Pathogenic Contribution", "order": 9, "content": "The EGFR p.(Glu746_Ala750del) (E746_A750del) alteration is oncogenic and located in the tyrosine kinase domain in\nexon 19. It is frequently found in non-small cell lung cancer (NSCLC) and causes activating mutations that confer\nsensitivity to tyrosine kinase inhibitors (TKIs) like gefitinib and erlotinib (PMID:18508816, 22483783, 16467085,\n18325048). Patients with this mutation benefit from these treatments (PMID:15118073, 15118125, 15329413).", "page": 1, "source_lines": [ 104, 105, 106, 107, 108 ] }, { "heading": "Predictive/Therapeutic Significance", "order": 10, "content": "FDA-approved TKIs for EGFR exon 19 deleted NSCLC include first-generation (Erlotinib, Gefitinib), second-generation\n(Dacomitinib, Afatinib), and third-generation (Osimertinib). The third-generation TKI Lazertinib is also FDA-approved in\ncombination with Amivantamab in this indication. Additionally, TROP2-directed drug Datopotamab deruxtecan is FDA-\napproved for EGFR-mutated NSCLC patients who have had prior EGFR therapy and platinum chemotherapy", "page": 1, "source_lines": [ 110, 111, 112, 113, 166 ] }, { "heading": "Prognostic Significance", "order": 11, "content": "A recent meta-analysis by Le-Tian Huang et al (12 studies; n = 1,630 NSCLC patients with EGFR 19deletion demonstrated\nthat EGFR exon 19 deletion subtypes show prognostic heterogeneity. Deletions starting at E746 were associated with\nbetter overall survival compared with those starting at L747 (HR 0.79). The common E746_A750del subtype showed a\nhigher likelihood of acquiring T790M after first-/second-generation EGFR-TKIs, but no significant difference in PFS\ncompared with other 19del variants. No PFS differences were observed between 15-nucleotide deletions and other\nsubtypes. Overall, specific 19del subtypes may influence survival outcomes and mechanisms of resistance but do not\nalter current treatment recommendations (PMID:35151115).", "page": 2, "source_lines": [ 169, 170, 171, 172, 173, 174, 175, 176 ] }, { "heading": "Diagnostic Significance", "order": 12, "content": "EGFR E746_A750del is a clinically important predictive and prognostic biomarker that indicates sensitivity to EGFR-", "page": 2, "source_lines": [ 178, 179 ] } ] }, { "heading": "Variant:TP53 p.(Leu206Tyrfs*3)", "order": 13, "page": 2, "source_lines": [ 182 ], "children": [ { "heading": "Pathogenic Contribution", "order": 14, "content": "TP53 p.(Leu206Tyrfs3) (L206Yfs3) is a truncating, likely oncogenic variant predicted to result in loss of TP53 function.\nTP53 truncating variants are generally inactivating and have been associated with tumor progression and poorer\nprognosis (PMIDs:11900253, 11753428, 16007150, 21467160, 19336573). Experimental studies also support increased\ntumor cell proliferation, survival, and metastasis (PMID:27759562).", "page": 2, "source_lines": [ 183, 184, 185, 186, 187 ] }, { "heading": "Predictive/Therapeutic Significance", "order": 15, "content": "There are no FDA-approved or NCCN-compendium listed treatments specifically for patients with TP53 mutant non-\nsmall cell lung cancer.", "page": 2, "source_lines": [ 189, 190, 191 ] }, { "heading": "Prognostic Significance", "order": 16, "content": "TP53 mutations occur in approximately 50% of lung adenocarcinomas (LUAD) and are generally associated with adverse\nclinical outcomes. In early-stage disease,TP53 alterations have been linked to reduced survival, while in advanced LUAD,\nTP53-mutant tumors have been reported to demonstrate shorter median overall survival compared with TP53 wild-type\ntumors (17.5 vs 22.9 months). Overall,TP53 mutation in advanced LUAD is associated with an unfavorable prognostic\ntrend compared with TP53 wild-type disease (PMID:39830995).", "page": 2, "source_lines": [ 193, 194, 195, 196, 197, 198 ] }, { "heading": "Diagnostic Significance", "order": 17, "content": "TP53 is the most frequently altered gene in various solid and hematological malignancies and therefore, its diagnostic\nutility is limited in NSCLC.", "page": 2, "source_lines": [ 200, 201, 202 ] } ] } ] }, { "heading": "Assay Information and Methodology", "order": 18, "content": "The assay utilizing a minimum of 10ng of DNA and 10ng of RNA at 500X coverage provides an analytical sensitivity of more than equal to 5\npercent for DNA-based genetic alteration.\nVariants of strong and potential clinical significance are only reported in somatic panels.", "page": 3, "source_lines": [ 261, 292, 293, 296 ], "children": [ { "heading": "Test Description", "order": 19, "content": "– This customized panel is a multi-biomarker next generation sequencing assay that interrogates the under mentioned genes for\nSingle nucleotide Variants (SNVs) and Fusion Rearrangements as mentioned below.", "page": 3, "source_lines": [ 264, 265 ] }, { "heading": "Genes Analyzed for SNVs", "order": 20, "content": "AKT1, ALK, BRAF, EGFR, ERBB2, KRAS, KEAP1, MET, NRAS, NTRK1, PTEN, RB1, ROS1, TP53, STK11,SMARCA4", "page": 3, "source_lines": [ 268 ] }, { "heading": "Genes Analyzed for Rearrangements", "order": 21, "content": "ABL1, AKT3, ALK, AXL, BRAF, EGFR, ERBB2, ERG, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK2,\nNTRK3, PDGFRA, PPARG, RAF1, RET, ROS1, SMO.", "page": 3, "source_lines": [ 271, 272 ] }, { "heading": "Quality Metrics", "order": 22, "metrics": { "DNA": { "status": "PASSED", "Mean depth of coverage": "2503x", "Uniformity": "94.50%" }, "RNA": { "status": "PASSED", "Total mapped fusion reads": "126037 (Cutoff for QC Pass >20,000)" } }, "page": 3, "source_lines": [ 275, 278, 281, 283, 286, 289 ] }, { "heading": "Disclaimer", "order": 23, "content": "The information in this report does not constitute a treatment recommendation or recommendation to not use any specific therapeutic agent,\nand it should not be interpreted as treatment advice. Decisions concerning patient care and treatment rest solely within the discretion of the patient's\ntreating physician.", "page": 3, "source_lines": [ 299, 300, 301 ] } ] } ] } ] }, "authorization": { "performed_by": "Mamta Arya Scientist C\nAkaash Kumar Scientist B\nMolecular Diagnostics", "reviewed_by": "Dr Rushali Saxena\nAttending Consultant, Pathology", "approved_by": "Dr. Anurag Mehta\nPrincipal Director Laboratory Services\nRajiv Gandhi Cancer Institute & Research Centre.\nRohini, New Delhi." }, "processing": { "source_file": "/app/uploads/29381_Lung COE NGS only Panel(Saarthi).pdf", "content_hash": "dc889a4da209608bd4c3fc80b9d2cdae80d69a931340d385a2a36058127e851f", "processed_at": "2026-09-14T07:36:05.498779+00:00", "pipeline_version": "1.0.0", "pipeline_name": "molecular", "pages": 3, "sections_detected": 1, "warnings_count": 0, "skipped_image_blocks": 3, "skipped_figure_lines": 0, "content_coverage": 0.9891, "validation_status": "PASSED", "validation_failures": [], "validation_warnings": [], "header_layout": "B" } }