# Cytogenetics and karyotype

Source: https://onco.cc/terms/cytogenetics/  
OnCo record `cytogenetics` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Term
- Last checked: 2026-09-09
- Also known as: 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

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Cytogenetics
- Wikipedia: https://en.wikipedia.org/wiki/Cytogenetics

## Connected records

- terms: [AML with myelodysplasia-related gene mutations (AML-MR)](https://onco.cc/terms/aml-myelodysplasia-related/), [B-ALL risk groups (NCI criteria, ETV6::RUNX1, hyperdiploidy, hypodiploidy, iAMP21, IKZF1, CNS status)](https://onco.cc/terms/b-all-cytogenetic-risk/), [del(5q) (5q- syndrome and lenalidomide response)](https://onco.cc/terms/del5q/), [DIPSS, DIPSS-plus and MIPSS70 (myelofibrosis risk scores)](https://onco.cc/terms/dipss-mipss70/), [Disease-specific staging and risk systems (FIGO, Ann Arbor, IPI, R-ISS, ELN, IMDC)](https://onco.cc/terms/staging-systems/), [FISH / ISH (in situ hybridisation)](https://onco.cc/terms/fish/), [Gene amplification and copy-number change](https://onco.cc/terms/gene-amplification/), [Gene fusion](https://onco.cc/terms/gene-fusion/), [IPSS-R and IPSS-M (myelodysplastic syndrome risk scores)](https://onco.cc/terms/ipss-m-ipss-r/), [MIPI (Mantle Cell Lymphoma International Prognostic Index)](https://onco.cc/terms/mipi/), [Philadelphia chromosome (Ph+, BCR::ABL1)](https://onco.cc/terms/philadelphia-chromosome/), [Segmental chromosomal aberrations and ploidy (neuroblastoma)](https://onco.cc/terms/segmental-chromosomal-aberrations/), [t(11;14), cyclin D1 and SOX11](https://onco.cc/terms/cyclin-d1-t11-14/), [The germinal centre: why lymphoma starts where antibodies are made](https://onco.cc/terms/lymphoma-bio-germinal-centre/), [TP53-mutated (p53-abnormal)](https://onco.cc/terms/tp53-mutated/), [Wilms tumour risk markers (anaplasia, 1p/16q loss, 1q gain, SIOP and COG risk groups)](https://onco.cc/terms/wilms-risk-markers/)
- cancers: [Acute lymphoblastic leukaemia](https://onco.cc/cancers/all-leukemia/), [Acute myeloid leukaemia](https://onco.cc/cancers/aml/), [Acute promyelocytic leukaemia](https://onco.cc/cancers/apl/), [Chronic lymphocytic leukaemia](https://onco.cc/cancers/cll/), [Chronic myelomonocytic leukaemia and MDS/MPN overlap neoplasms](https://onco.cc/cancers/cmml/), [Multiple myeloma](https://onco.cc/cancers/multiple-myeloma/), [Non-Hodgkin lymphoma (all types)](https://onco.cc/cancers/non-hodgkin-lymphoma/)
- fronts: [Diagnostics & Biomarkers](https://onco.cc/fronts/diagnostics/)
- targets: [EWSR1-FLI1 fusion](https://onco.cc/targets/ewsr1-fli1/)
- biomarkers: [1p/19q codeletion](https://onco.cc/biomarkers/1p19q-codeletion-readout/), [BCL2 rearrangement, t(14;18)](https://onco.cc/biomarkers/bcl2-rearrangement/), [CD33 expression (CD33-positive)](https://onco.cc/biomarkers/cd33-expression/), [Double-hit and triple-hit: MYC with BCL2 and BCL6 rearrangement](https://onco.cc/biomarkers/double-hit-rearrangement/)

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