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A swapped piece between chromosomes 9 and 22 that fuses two genes into BCR::ABL1, a runaway kinase. It causes chronic myeloid leukaemia and a hard-to-treat quarter of adult acute lymphoblastic leukaemia, and was the target of imatinib, the first modern targeted cancer drug.
Described by Nowell and Hungerford in 1960 and explained by Rowley in 1973, the Philadelphia chromosome defines CML and Ph+ ALL. Imatinib (2001) turned CML into a chronic condition with near-normal life expectancy; dasatinib, nilotinib, bosutinib, ponatinib (covers T315I) and asciminib (allosteric) followed. In Ph+ ALL, TKIs plus chemotherapy or chemotherapy-free TKI plus blinatumomab (GIMEMA D-ALBA) now cure most patients without transplant. Ph-like ALL has a similar gene expression signature without the fusion and responds to some of the same drugs. Detected by karyotype, FISH or PCR for the fusion transcript.
Showing the molecule this term concerns: Imatinib.
The glossary entry explains the word; the readout page carries the scoring rule, the thresholds approvals use, the companion diagnostics and the tests.
Shares BCR::ABL1 transcript (Philadelphia chromosome, quantitative PCR), BCR::ABL1 kinase domain mutations (T315I and others), Ponatinib, Asciminib.
Shares Ponatinib, Asciminib, Chronic myeloid leukaemia, chronic phase, Chronic myeloid leukaemia, accelerated and blast phase.
Shares Ponatinib, Asciminib, Dasatinib, Philadelphia chromosome-positive acute lymphoblastic leukaemia in children (Ph-positive ALL).
Shares Ponatinib, Chronic myeloid leukaemia, accelerated and blast phase, Dasatinib, Philadelphia chromosome-positive acute lymphoblastic leukaemia in children (Ph-positive ALL).
Shares Ponatinib, Asciminib, Chronic myeloid leukaemia, chronic phase, Chronic myeloid leukaemia, accelerated and blast phase.
Shares Sokal and ELTS risk scores (chronic myeloid leukaemia), BCR::ABL1 transcript (Philadelphia chromosome, quantitative PCR), Molecular response (MMR, MR4, treatment-free remission), BCR::ABL1 kinase domain mutations (T315I and others).
Shares BCR::ABL1 transcript (Philadelphia chromosome, quantitative PCR), BCR::ABL1 kinase domain mutations (T315I and others), Ponatinib, Asciminib.
Shares Sokal and ELTS risk scores (chronic myeloid leukaemia), BCR::ABL1 transcript (Philadelphia chromosome, quantitative PCR), BCR::ABL1 kinase domain mutations (T315I and others), Chronic myeloid leukaemia, chronic phase.