Cytogenetics and karyotype
Looking at a cancer's chromosomes under the microscope to find missing, extra, broken or swapped pieces. It has been the main risk-sorting tool in leukaemia, myeloma and lymphoma for decades.
Conventional karyotyping needs dividing cells and gives a whole-genome overview at low resolution; FISH targets specific abnormalities; NGS and optical genome mapping are replacing both. Cytogenetic risk groups drive treatment: t(8;21) and inv(16) AML are favourable and avoid transplant, complex or monosomal karyotypes are adverse; t(4;14), del(17p) and 1q gain define high-risk myeloma; hypodiploidy is adverse in childhood ALL; t(11;14) myeloma predicts venetoclax sensitivity. The Philadelphia chromosome t(9;22) is the founding example. Solid tumours use the same ideas for sarcoma translocations (EWSR1-FLI1) and 1p/19q co-deletion in oligodendroglioma.
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