{ "metadata": { "name": "MR. VIPAN BANSAL", "cr_no": "393678", "age_sex": "68Y/Male", "referred_doctor": "Dr. Ullas Batra/ Mansi/Abhinav/Sabeena", "sample_type": "Tumor Tissue (FFPE block) – B/9693/2026 [1-2]", "diagnosis": "Lung Carcinosarcoma", "tumor_fraction": "~70%", "order_no": "", "order_date": "01.08.2026", "receiving_date": "08.08.2026", "reporting_date": "27.08.2026", "lab_id": "2026239-2178" }, "report_information": { "panel_title": "NGS SMART Lung Panel" }, "clinical_content": { "sections": [ { "heading": "Report Highlights", "order": 1, "content": "Alteration detected", "page": 1, "source_lines": [ 57 ], "children": [ { "kind": "list_item", "content": "MET Exon14 Skipping variant", "page": 1, "order": 2 }, { "kind": "list_item", "content": "TP53 p.(?)", "page": 1, "order": 3 }, { "heading": "RNA Sequence Variants", "order": 4, "page": 1, "source_lines": [ 92 ], "children": [ { "kind": "table", "headers": [ "Read counts per" ], "rows": [ [ "Gene Locus Variant ID Total mapped reads" ], [ "million" ], [ "MET(13) -MET(15) chr7:116411708 - chr7:116414935 MET-MET.M13M15 10928 92447" ] ], "order": 5 } ] }, { "heading": "DNA Sequence Variants", "order": 6, "page": 1, "source_lines": [ 61 ], "children": [ { "kind": "table", "headers": [ "Gene", "Transcript", "Genomic Locus", "Coding DNA change", "Amino Acid Change", "Variant Allele Frequency (%)", "Variant Type", "Clinical Significance" ], "rows": [ [ "TP53", "NM_000546.6", "chr17:7578370", "c.559+1G>A", "p.(?)", "31.45", "Splice-site", "Strong clinical significance" ] ], "order": 7 }, { "heading": "Genomic Assembly", "order": 8, "content": "GrCH 37(hg19)", "page": 1, "source_lines": [ 84 ] } ] }, { "heading": "Interpretation Summary", "order": 9, "content": "MET exon 14 skipping variant is an oncogenic driver and established predictive biomarker for MET-targeted therapy with FDA-\napproved capmatinib and tepotinib (PMID:25971939, 26729443, 25971938, 26215952). Concurrent TP53 alteration may confer\nmore aggressive biology (DOI: 10.3389/fonc.2021.649766).\nNote:MET exon 14 skipping was detected by RNA sequencing and orthogonally confirmed by single-gene RNA RT-PCR.", "page": 1, "source_lines": [ 85, 86, 87, 88, 89 ] }, { "heading": "Clinical Significance", "order": 10, "page": 2, "source_lines": [ 156 ], "children": [ { "heading": "Variant:MET exon 14 skipping", "order": 11, "page": 2, "source_lines": [ 158 ], "children": [ { "heading": "Pathogenic Contribution", "order": 12, "content": "MET exon 14 skipping is an Oncogenic driver alteration in NSCLC (OncoKB). Loss of MET exon 14 results in the loss of\nbinding to the MET negative regulator CBL, increased MET protein levels, enhanced downstream MET signaling, and\npromotion of cell growth (PMID:25971939, 26729443, 25971938, 26215952).", "page": 2, "source_lines": [ 159, 160, 161, 162 ] }, { "heading": "Predictive/Therapeutic Significance", "order": 13, "content": "The MET-targeted inhibitors capmatinib and tepotinib are FDA-approved for the treatment of patients with metastatic", "page": 2, "source_lines": [ 164, 165 ] }, { "heading": "Prognostic Significance", "order": 14, "content": "MET ex14‑positive NSCLC may exhibit aggressive biology. Co‑occurring alterations such as MET amplification, MDM2\namplification, and TP53 mutations are frequent in MET ex14 NSCLC and have been associated with more aggressive\ndisease and/or shorter responses to MET TKIs in several genomic and real‑world series. Data specific to pulmonary\ncarcinosarcoma remain limited, although MET alterations (including exon 14 skipping and amplification) are enriched in\npulmonary sarcomatoid carcinoma and MET amplification is an adverse prognostic factor in this subtype (DOI:\n10.1200/JCO.2018.36.15_suppl.9083, PMID:38271745).", "page": 2, "source_lines": [ 168, 169, 170, 171, 172, 173, 174 ] }, { "heading": "Diagnostic Significance", "order": 15, "content": "MET ex14 is primarily a predictive biomarker for MET-targeted therapy; however, it has no independent diagnostic role\nin NSCLC.", "page": 2, "source_lines": [ 176, 177, 178 ] } ] }, { "heading": "Variant:TP53 p.(?)", "order": 16, "page": 2, "source_lines": [ 180 ], "children": [ { "heading": "Pathogenic Contribution", "order": 17, "content": "This sequence change affects the donor splice site in intron 5 of TP53 and is expected to disrupt RNA splicing, resulting\nin loss of TP53 function (PMID:16199547, 20522432). The variant is absent from population databases (gnomAD no\nfrequency). Disruption of this splice site has been reported in cancer, including breast cancer and acute lymphoblastic\nleukemia (PMID:23484829, 23894400, 26911350, 27619989, 30212483). Overall, this variant is reported as Pathogenic\nin ClinVar (Variation ID: 428908).", "page": 2, "source_lines": [ 181, 182, 183, 184, 185, 186 ] }, { "heading": "Predictive/Therapeutic Significance", "order": 18, "content": "There are no FDA-approved or NCCN-compendium listed treatments specifically for patients with TP53 mutant non-", "page": 2, "source_lines": [ 188, 189 ] }, { "heading": "Prognostic Significance", "order": 19, "content": "TP53 alterations are also frequent in primary and metastatic pulmonary sarcomatoid carcinoma (DOI:\n10.4143/crt.2023.764).TP53-mutant NSCLC and pulmonary sarcomatoid carcinoma are generally associated with\naggressive biology and poor prognosis (DOI: 10.3389/fonc.2021.649766).", "page": 2, "source_lines": [ 192, 193, 194, 195 ] }, { "heading": "Diagnostic Significance", "order": 20, "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": [ 196, 250, 251 ] }, { "heading": "Additional Note", "order": 21, "content": "Report highlights were conveyed to Dr. Ullas Batra’s clinical team (Tannu) on 26/08/2026, 05:30 pm.", "page": 3, "source_lines": [ 253 ] } ] } ] }, { "heading": "Assay Information and Methodology", "order": 22, "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": [ 255, 286, 287, 290 ], "children": [ { "heading": "Test Description", "order": 23, "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": [ 258, 259 ] }, { "heading": "Genes Analyzed for SNVs", "order": 24, "content": "AKT1, ALK, BRAF, EGFR, ERBB2, KRAS, KEAP1, MET, NRAS, NTRK1, PTEN, RB1, ROS1, TP53, STK11,SMARCA4", "page": 3, "source_lines": [ 262 ] }, { "heading": "Genes Analyzed for Rearrangements", "order": 25, "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": [ 265, 266 ] }, { "heading": "Quality Metrics", "order": 26, "metrics": { "DNA": { "status": "PASSED", "Mean depth of coverage": "3356x", "Uniformity": "80.61%" }, "RNA": { "status": "PASSED", "Total mapped fusion reads": "118208 (Cutoff for QC Pass >20,000)" } }, "page": 3, "source_lines": [ 269, 272, 275, 277, 280, 283 ] }, { "heading": "Disclaimer", "order": 27, "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": [ 293, 294, 295 ] } ] } ] } ] }, "authorization": { "performed_by": "Mamta Arya Scientist C\nAkaash Kumar Scientist B\nMolecular Diagnostics", "reviewed_by": "Dr Rushali Saxena\nAttending Consultant, Pathology", "approved_by": "Dr. Sayak Ghatak\nSenior Consultant, Molecular Diagnostics\nRajiv Gandhi Cancer Institute & Research Centre.\nRohini, New Delhi." }, "processing": { "source_file": "/app/uploads/29389_Lung COE NGS only Panel(Saarthi).pdf", "content_hash": "6f36c914e227e89337a523a62005369db6f7a5b5c00d874f2da83edfc0a5e3b7", "processed_at": "2026-09-12T12:30:37.273829+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": 0.9931, "validation_status": "PASSED", "validation_failures": [], "validation_warnings": [], "header_layout": "B" } }