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小儿急性淋巴细胞白血病患者接受酪氨酸激酶抑制剂治疗期间出现的BCR/ABL1新突变

Emerging BCR/ABL1 Mutations Under Treatment with Tyrosine Kinase Inhibitors in Paediatric Acute Lymphoblastic Leukaemia.

作者信息

Molinos-Quintana Agueda, Aquino Virginia, Montero Isabel, Pérez-de Soto Concepción, García-Lozano Raúl, Pérez-Simón José Antonio, Pérez-Hurtado José María

机构信息

Paediatric Haematology Section, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBIS)/CSIC/Universidad de Sevilla, Sevilla, Spain.

出版信息

Acta Haematol. 2015;134(2):71-5. doi: 10.1159/000371831. Epub 2015 Apr 18.

Abstract

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.

摘要

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。

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