Genetic Heterogeneity of Philadelphia Chromosome-Positive Leukemias With a Spotlight on Two Cases: Relapsed Acute Lymphoblastic Leukemia and De Novo Acute Myeloid Leukemia

Abstract

The Philadelphia chromosome (Ph) resulting from t(9;22)(q34;q11) is the hallmark of chronic myeloid leukemia (CML), and is also identified in a subset of acute lymphoblastic leukemia (ALL) and rarely in acute myeloid leukemia (AML). This derivative chromosome contains the BCR-ABL1 fusion gene that encodes for a constitutively active tyrosine kinase. Amplification of BCR-ABL1 and mutations in the ABL1 kinase domain are known causes of tyrosine …