Molinos-Quintana Agueda, Aquino Virginia, Montero Isabel, Pérez-de Soto Concepción, García-Lozano Raúl, Pérez-Simón José Antonio, Pérez-Hurtado José María
Paediatric Haematology Section, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBIS)/CSIC/Universidad de Sevilla, Sevilla, Spain.
Acta Haematol. 2015;134(2):71-5. doi: 10.1159/000371831. Epub 2015 Apr 18.
We report on the emergence and clinical relevance of an unusual BCR-ABL1 kinase domain mutational status in a 2-year-old female with p210-BCR-ABL Philadelphia chromosome-positive acute lymphoblastic leukaemia. We detected three BCR-ABL1 clones determined by the presence of the E255V, D276G and F317L mutations. We point out the usefulness of searching for mutated populations that survive tyrosine-kinase inhibitor therapy and the role of their clonal selection over time in relation to therapeutic intervention.
我们报告了一名2岁p210-BCR-ABL费城染色体阳性急性淋巴细胞白血病女性患者中异常的BCR-ABL1激酶结构域突变状态的出现及其临床相关性。我们检测到由E255V、D276G和F317L突变确定的三个BCR-ABL1克隆。我们指出了寻找酪氨酸激酶抑制剂治疗后存活的突变群体的有用性,以及它们的克隆选择随时间与治疗干预的关系。