{"entity":{"id":"cytogenetics","kind":"term","name":"Cytogenetics and karyotype","aka":["cytogenetic","karyotype","complex karyotype","monosomal karyotype","chromosomal abnormalities","high-risk cytogenetics","adverse cytogenetics","favourable cytogenetics","translocation","t(4;14)","t(11;14)","t(8;21)","inv(16)","hyperdiploid","hypodiploid","metaphase","translocations","karyotypes"],"tldr":"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.","summary":"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.","asOf":"2026-09-09","wikipedia":"https://en.wikipedia.org/wiki/Cytogenetics","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Cytogenetics"}],"tags":[],"related":["fish","philadelphia-chromosome","gene-amplification","gene-fusion"],"cancers":["aml","multiple-myeloma","all-leukemia","cll"],"sections":["diagnostics"],"technologies":[],"targets":["ewsr1-fli1"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"category":"Biomarkers"},"route":"/terms/cytogenetics/","neighbours":{"term":[{"id":"aml-myelodysplasia-related","kind":"term","name":"AML with myelodysplasia-related gene mutations (AML-MR)","route":"/terms/aml-myelodysplasia-related/"},{"id":"b-all-cytogenetic-risk","kind":"term","name":"B-ALL risk groups (NCI criteria, ETV6::RUNX1, hyperdiploidy, hypodiploidy, iAMP21, IKZF1, CNS status)","route":"/terms/b-all-cytogenetic-risk/"},{"id":"del5q","kind":"term","name":"del(5q) (5q- syndrome and lenalidomide response)","route":"/terms/del5q/"},{"id":"dipss-mipss70","kind":"term","name":"DIPSS, DIPSS-plus and MIPSS70 (myelofibrosis risk scores)","route":"/terms/dipss-mipss70/"},{"id":"staging-systems","kind":"term","name":"Disease-specific staging and risk systems (FIGO, Ann Arbor, IPI, R-ISS, ELN, IMDC)","route":"/terms/staging-systems/"},{"id":"fish","kind":"term","name":"FISH / ISH (in situ hybridisation)","route":"/terms/fish/"},{"id":"gene-amplification","kind":"term","name":"Gene amplification and copy-number change","route":"/terms/gene-amplification/"},{"id":"gene-fusion","kind":"term","name":"Gene fusion","route":"/terms/gene-fusion/"},{"id":"ipss-m-ipss-r","kind":"term","name":"IPSS-R and IPSS-M (myelodysplastic syndrome risk scores)","route":"/terms/ipss-m-ipss-r/"},{"id":"mipi","kind":"term","name":"MIPI (Mantle Cell Lymphoma International Prognostic Index)","route":"/terms/mipi/"},{"id":"philadelphia-chromosome","kind":"term","name":"Philadelphia chromosome (Ph+, BCR::ABL1)","route":"/terms/philadelphia-chromosome/"},{"id":"segmental-chromosomal-aberrations","kind":"term","name":"Segmental chromosomal aberrations and ploidy (neuroblastoma)","route":"/terms/segmental-chromosomal-aberrations/"},{"id":"cyclin-d1-t11-14","kind":"term","name":"t(11;14), cyclin D1 and SOX11","route":"/terms/cyclin-d1-t11-14/"},{"id":"lymphoma-bio-germinal-centre","kind":"term","name":"The germinal centre: why lymphoma starts where antibodies are made","route":"/terms/lymphoma-bio-germinal-centre/"},{"id":"tp53-mutated","kind":"term","name":"TP53-mutated (p53-abnormal)","route":"/terms/tp53-mutated/"},{"id":"wilms-risk-markers","kind":"term","name":"Wilms tumour risk markers (anaplasia, 1p/16q loss, 1q gain, SIOP and COG risk groups)","route":"/terms/wilms-risk-markers/"}],"cancer":[{"id":"all-leukemia","kind":"cancer","name":"Acute lymphoblastic leukaemia","route":"/cancers/all-leukemia/"},{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"apl","kind":"cancer","name":"Acute promyelocytic leukaemia","route":"/cancers/apl/"},{"id":"cll","kind":"cancer","name":"Chronic lymphocytic leukaemia","route":"/cancers/cll/"},{"id":"cmml","kind":"cancer","name":"Chronic myelomonocytic leukaemia and MDS/MPN overlap neoplasms","route":"/cancers/cmml/"},{"id":"multiple-myeloma","kind":"cancer","name":"Multiple myeloma","route":"/cancers/multiple-myeloma/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"}],"section":[{"id":"diagnostics","kind":"section","name":"Diagnostics & Biomarkers","route":"/fronts/diagnostics/"}],"target":[{"id":"ewsr1-fli1","kind":"target","name":"EWSR1-FLI1 fusion","route":"/targets/ewsr1-fli1/"}],"biomarker":[{"id":"1p19q-codeletion-readout","kind":"biomarker","name":"1p/19q codeletion","route":"/biomarkers/1p19q-codeletion-readout/"},{"id":"bcl2-rearrangement","kind":"biomarker","name":"BCL2 rearrangement, t(14;18)","route":"/biomarkers/bcl2-rearrangement/"},{"id":"cd33-expression","kind":"biomarker","name":"CD33 expression (CD33-positive)","route":"/biomarkers/cd33-expression/"},{"id":"double-hit-rearrangement","kind":"biomarker","name":"Double-hit and triple-hit: MYC with BCL2 and BCL6 rearrangement","route":"/biomarkers/double-hit-rearrangement/"}]}}