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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.
In plain words · The fused gene that defines Ewing sarcoma: an aberrant transcription factor that has resisted 30 years of drug design.
Showing the target this term concerns: EWSR1-FLI1 fusion.
The glossary entry explains the word; the readout page carries the scoring rule, the thresholds approvals use, the companion diagnostics and the tests.
Shares DIPSS, DIPSS-plus and MIPSS70 (myelofibrosis risk scores), IPSS-R and IPSS-M (myelodysplastic syndrome risk scores), Philadelphia chromosome (Ph+, BCR::ABL1), Chronic myelomonocytic leukaemia and MDS/MPN overlap neoplasms.
Shares t(11;14), cyclin D1 and SOX11, TP53-mutated (p53-abnormal), FISH / ISH (in situ hybridisation), Chronic lymphocytic leukaemia.
Shares EWSR1-FLI1 fusion, BCL2 rearrangement, t(14;18), Double-hit and triple-hit: MYC with BCL2 and BCL6 rearrangement, Acute promyelocytic leukaemia.
Shares B-ALL risk groups (NCI criteria, ETV6::RUNX1, hyperdiploidy, hypodiploidy, iAMP21, IKZF1, CNS status), Philadelphia chromosome (Ph+, BCR::ABL1), FISH / ISH (in situ hybridisation), Acute lymphoblastic leukaemia.
Shares AML with myelodysplasia-related gene mutations (AML-MR), IPSS-R and IPSS-M (myelodysplastic syndrome risk scores), Chronic myelomonocytic leukaemia and MDS/MPN overlap neoplasms, Chronic lymphocytic leukaemia.
Shares Chronic myelomonocytic leukaemia and MDS/MPN overlap neoplasms, Chronic lymphocytic leukaemia, Acute lymphoblastic leukaemia, Acute myeloid leukaemia.
Shares CD33 expression (CD33-positive), Chronic lymphocytic leukaemia, Acute lymphoblastic leukaemia, Acute myeloid leukaemia.
Shares BCL2 rearrangement, t(14;18), Double-hit and triple-hit: MYC with BCL2 and BCL6 rearrangement, The germinal centre: why lymphoma starts where antibodies are made, Non-Hodgkin lymphoma (all types).