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  • Title: BCR-ABL1 mutations in patients with imatinib-resistant Philadelphia chromosome-positive leukemia by use of the PCR-Invader assay.
    Author: Ono T, Miyawaki S, Kimura F, Kanamori H, Ohtake S, Kitamura K, Fujita H, Sugiura I, Usuki K, Emi N, Tamaki S, Aoyama Y, Kaya H, Naoe T, Tadokoro K, Yamaguchi T, Ohno R, Ohnishi K, Japan Adult Leukemia Study Group.
    Journal: Leuk Res; 2011 May; 35(5):598-603. PubMed ID: 21239056.
    Abstract:
    BCR-ABL1 kinase domain mutations were evaluated in 60 imatinib-resistant patients with Philadelphia-positive (Ph(+)) leukemia using PCR-Invader assay and direct sequencing. In chronic myelogenous leukemia (CML)--chronic phase (CP), 5 had P-loop mutations and 3 had T315I mutations. CML-CP patients with high Sokal score showed significantly higher incidence of mutations. P-loop mutations were associated with higher risk of disease progression. In CML-advanced phase, P-loop mutations and T315I mutation were associated with significantly shorter survival. In Ph(+) acute lymphoblastic leukemia, overall survival was poor irrespective of mutational status. The PCR-Invader assay is useful for screening of mutations and prediction of prognosis.
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