{"entity":{"id":"philadelphia-chromosome","kind":"term","name":"Philadelphia chromosome (Ph+, BCR::ABL1)","aka":["Philadelphia","Ph+","Ph-positive","Ph-negative","BCR-ABL","BCR-ABL1","BCR::ABL1","t(9;22)","Philadelphia-positive","Ph+ ALL","p190 transcript","p210 transcript","BCR::ABL1 transcript type"],"tldr":"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.","summary":"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.","asOf":"2026-09-09","wikipedia":"https://en.wikipedia.org/wiki/Philadelphia_chromosome","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Philadelphia_chromosome"}],"tags":[],"related":["molecular-response","gene-fusion","cytogenetics","tki-term"],"cancers":["all-leukemia"],"sections":["targeted-therapy"],"technologies":[],"targets":[],"drugs":["imatinib","dasatinib","ponatinib","asciminib","blinatumomab"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"category":"Biomarkers"},"route":"/terms/philadelphia-chromosome/","neighbours":{"term":[{"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":"abl1-kinase-domain-mutations","kind":"term","name":"BCR::ABL1 kinase domain mutations (T315I and others)","route":"/terms/abl1-kinase-domain-mutations/"},{"id":"blasts","kind":"term","name":"Blasts (leukaemic blast cells)","route":"/terms/blasts/"},{"id":"cytogenetics","kind":"term","name":"Cytogenetics and karyotype","route":"/terms/cytogenetics/"},{"id":"gene-fusion","kind":"term","name":"Gene fusion","route":"/terms/gene-fusion/"},{"id":"molecular-response","kind":"term","name":"Molecular response (MMR, MR4, treatment-free remission)","route":"/terms/molecular-response/"},{"id":"ph-like-all","kind":"term","name":"Ph-like (BCR::ABL1-like) acute lymphoblastic leukaemia","route":"/terms/ph-like-all/"},{"id":"sokal-elts-scores","kind":"term","name":"Sokal and ELTS risk scores (chronic myeloid leukaemia)","route":"/terms/sokal-elts-scores/"},{"id":"tki-term","kind":"term","name":"Tyrosine kinase inhibitor (TKI)","route":"/terms/tki-term/"}],"cancer":[{"id":"all-leukemia","kind":"cancer","name":"Acute lymphoblastic leukaemia","route":"/cancers/all-leukemia/"},{"id":"cml-advanced-phase","kind":"cancer","name":"Chronic myeloid leukaemia, accelerated and blast phase","route":"/cancers/cml-advanced-phase/"},{"id":"cml-chronic-phase","kind":"cancer","name":"Chronic myeloid leukaemia, chronic phase","route":"/cancers/cml-chronic-phase/"},{"id":"all-ph-like","kind":"cancer","name":"Philadelphia chromosome-like acute lymphoblastic leukaemia (Ph-like or BCR::ABL1-like ALL)","route":"/cancers/all-ph-like/"},{"id":"all-paediatric-ph-positive","kind":"cancer","name":"Philadelphia chromosome-positive acute lymphoblastic leukaemia in children (Ph-positive ALL)","route":"/cancers/all-paediatric-ph-positive/"}],"section":[{"id":"targeted-therapy","kind":"section","name":"Targeted Therapy","route":"/fronts/targeted-therapy/"}],"drug":[{"id":"asciminib","kind":"drug","name":"Asciminib","route":"/drugs/asciminib/"},{"id":"blinatumomab","kind":"drug","name":"Blinatumomab","route":"/drugs/blinatumomab/"},{"id":"dasatinib","kind":"drug","name":"Dasatinib","route":"/drugs/dasatinib/"},{"id":"imatinib","kind":"drug","name":"Imatinib","route":"/drugs/imatinib/"},{"id":"ponatinib","kind":"drug","name":"Ponatinib","route":"/drugs/ponatinib/"}],"biomarker":[{"id":"bcr-abl1-transcript","kind":"biomarker","name":"BCR::ABL1 transcript (Philadelphia chromosome, quantitative PCR)","route":"/biomarkers/bcr-abl1-transcript/"}]}}