Cytogenetics and FISH
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.
How it works
Metaphase banding for genome-wide structure; interphase FISH for specific loci at single-cell level.
- Genome-wide, cheap, decades of prognostic validation
- Needs dividing cells; 7-14 days; misses cryptic rearrangements
Latest papers
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