Loading
Taking a small piece of the suspicious tissue so a pathologist can examine it under the microscope. It is the only way to confirm a cancer diagnosis and to learn its type and markers.
Biopsies range from a fine needle drawing up cells, to a core needle removing a sliver of tissue, to surgical removal of the whole lesion; the sample is fixed, sliced, stained and read by a pathologist, and today also tested for protein markers and sequenced for mutations. Tissue is precious and finite, and a single biopsy samples one spot of a tumour that may vary from place to place and change over time, which is why repeat biopsies at progression and blood-based liquid biopsies have become important. Biopsies carry small risks (bleeding, infection, rarely tumour seeding) and some sites, such as the pancreas or brain, are hard to reach.
Showing the technology this term belongs to: Histopathology & immunohistochemistry.
The glossary entry explains the word; the readout page carries the scoring rule, the thresholds approvals use, the companion diagnostics and the tests.
It splits the alterations into two groups with different practical meanings. The repair defects are present at diagnosis at close to their castration-resistant prevalence, so testing early is worthwhile; AR, TP53 and RB1 changes accumulate later, so a diagnostic sample does not answer questions about the disease in front of you at relapse.
It showed the benefit of plasma testing is not only analytical but logistical: it reaches patients who are too unwell, or whose disease is too inaccessible, for a repeat biopsy.
It is the evidence behind running plasma and tissue together at diagnosis rather than in sequence, and the 80% sensitivity figure is the reason a negative plasma result never ends the work-up.
It changed how resistance is investigated: the first question at progression on osimertinib is whether T790M is still there, because losing it means the tumour is no longer EGFR-driven in the growing compartment and another EGFR inhibitor will not help.
It is the reason a laboratory can run one stain and report against several drug labels, and the reason any decision resting on an immune-cell score rests on the least reproducible number in lung pathology.
It is the document that defines what a complete lung cancer molecular report looks like, and its asymmetry about plasma, rule in but never rule out, is the single most useful sentence in it.
It is the study that justified using plasma instead of a bone biopsy in this disease, with the honest caveat attached: the concordance holds only above a tumour fraction threshold, and below it the test is uninformative rather than negative.
Lung cancers keep evolving after they form, and it is ongoing chromosomal instability rather than the number of mutations that best predicts who will relapse. This gives a rationale for targeting the earliest (clonal) drivers and neoantigens and for tracking evolution in blood after surgery.
Shares Clinical implications of plasma-based genotyping with the delivery of personalized therapy in metastatic non-small cell lung cancer, NILE: clinical utility of comprehensive cell-free DNA analysis to identify genomic biomarkers in patients with newly diagnosed metastatic non-small cell lung cancer, Concordance of circulating tumour DNA and matched metastatic tissue biopsy in prostate cancer, Circulating tumour DNA fraction (and what a negative plasma result means).
Shares Substantial interindividual and limited intraindividual genomic diversity among tumours from men with metastatic prostate cancer, ALK kinase-domain resistance mutation (G1202R and the rest), Concordance of circulating tumour DNA and matched metastatic tissue biopsy in prostate cancer, Genomics of lethal prostate cancer at diagnosis and castration resistance.
Shares Analysis of tumor specimens at the time of acquired resistance to EGFR-TKI therapy in 155 patients with EGFR-mutant lung cancers, Assessment of resistance mechanisms and clinical implications in patients with EGFR T790M-positive lung cancer and acquired resistance to osimertinib, Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors, Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors.
Shares Substantial interindividual and limited intraindividual genomic diversity among tumours from men with metastatic prostate cancer, Concordance of circulating tumour DNA and matched metastatic tissue biopsy in prostate cancer, Genomics of lethal prostate cancer at diagnosis and castration resistance, Treatment-emergent neuroendocrine transformation (recognising it).
Shares Circulating tumour DNA fraction (and what a negative plasma result means), Treatment-emergent neuroendocrine transformation (recognising it), Circulating tumour DNA (ctDNA), Comprehensive genomic profiling.
Shares Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors, TRACERx first 100: tracking how lung cancers evolve, and how chromosomal chaos predicts relapse, Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA).
Shares Immunohistochemistry (IHC), Histopathology & immunohistochemistry, Comprehensive genomic profiling, Liquid biopsy (ctDNA).
Shares Assessment of resistance mechanisms and clinical implications in patients with EGFR T790M-positive lung cancer and acquired resistance to osimertinib, Circulating tumour DNA (ctDNA), Comprehensive genomic profiling, Liquid biopsy (ctDNA).