Looking at the leukaemia's chromosomes under a microscope, or lighting up specific gene breaks with fluorescent probes, to classify risk.
Karyotype and FISH remain the backbone of leukaemia risk stratification: t(15;17), t(8;21), inv(16), complex/monosomal karyotype in AML; t(9;22), KMT2A, hypodiploidy, iAMP21 in ALL; del(17p), del(11q), del(13q), trisomy 12 in CLL. Increasingly complemented by optical genome mapping and NGS panels, but still required by ELN and NCCN.
Metaphase banding for genome-wide structure; interphase FISH for specific loci at single-cell level.
The tests that grade a breast or stomach cancer's HER2 level, from the original trastuzumab test in 1998 to the new 'HER2-low' and 'ultralow' cut-offs.
A urine test that looks for chromosome changes in shed bladder cells, approved for people with blood in the urine and for follow-up after bladder cancer.
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 fixes the population size for HER2-directed therapy, shows the enrichment in wild-type disease that makes reflex HER2 testing worthwhile there, and establishes that HER2 is not itself prognostic in this cancer.
It is the threshold behind the colorectal HER2 approvals: the more-than-50% rule, rather than the 10% used in gastric cancer, is what a pathologist applies when a bowel cancer is called HER2-positive.
It is the study that made multiplex testing standard practice in lung adenocarcinoma, by showing both that most tumours have a driver and that finding it changes what patients receive.
It is the reference frequency table for resistance to first-generation EGFR inhibitors, and it made rebiopsy at progression standard rather than exceptional, because the mechanism decides the next treatment and cannot be guessed.
It defined a class of lung cancer by a rearrangement and a clinical phenotype at the same time, and it is the reason ROS1 testing is recommended for every patient with adenocarcinoma rather than only for those with an obvious risk profile.
It was the first evidence that neuroendocrine prostate cancer is a distinct molecular disease with its own candidate drug target, and it started the programme of Aurora kinase trials in this setting, which have since disappointed.
It was the first therapeutically tractable alteration found in squamous lung cancer, and in the decade since it has become the standard example of amplification not equalling dependence, because copy number alone has selected patients poorly in trials.
Query for this technology: (TITLE:"Cytogenetics and FISH" OR ABSTRACT:"Cytogenetics and FISH") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about Cytogenetics and FISH, not a curated reading list.
Shares UroVysion Bladder Cancer Kit, Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer, ROS1 rearrangements define a unique molecular class of lung cancers, Molecular characterisation of neuroendocrine prostate cancer and identification of new drug targets.
Shares Chronic myelomonocytic leukaemia and MDS/MPN overlap neoplasms, Chronic myeloid leukaemia (CML), Myelodysplastic syndromes / neoplasms (MDS), Mantle cell lymphoma.
Shares Marginal zone lymphoma, Burkitt lymphoma, Mantle cell lymphoma, Follicular lymphoma.
Shares Marginal zone lymphoma, Burkitt lymphoma, Mantle cell lymphoma, Follicular lymphoma.
Shares EWSR1-FLI1 fusion, BCL2 rearrangement, t(14;18), Double-hit and triple-hit: MYC with BCL2 and BCL6 rearrangement, Acute promyelocytic leukaemia.
Shares Chronic myeloid leukaemia (CML), Myelodysplastic syndromes / neoplasms (MDS), Mantle cell lymphoma, Follicular lymphoma.
Shares Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer, Molecular characterisation of neuroendocrine prostate cancer and identification of new drug targets, 9p24.1 alteration of the PD-1 ligand loci, In vivo amplification of the androgen receptor gene and progression of human prostate cancer.
Shares Chronic myeloid leukaemia (CML), Myelodysplastic syndromes / neoplasms (MDS), Mantle cell lymphoma, Follicular lymphoma.