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Blood：用二代测序筛查慢性髓系白血病BCR-ABL1突变

2019-12-27 不详 MedSci原创

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对于慢性髓系白血病(CML)患者，酪氨酸激酶抑制剂(TKIs)或可选择耐药性BCR-ABL1激酶结构域(KD)突变体。虽然Sanger测序(SS)被认为是BCR-ABL1 KD突变筛查的金标准， 但近年来二代测序(NGS)也被用于回顾性研究。 研究人员开展一前瞻性多中心研究评估低水平突变的频率和临床相关性，以及在常规情况下基于NGS的BCR-ABL1突变筛查的可行性、成本和周转时间。 招

对于慢性髓系白血病(CML)患者，酪氨酸激酶抑制剂(TKIs)或可选择耐药性BCR-ABL1激酶结构域(KD)突变体。虽然Sanger测序(SS)被认为是BCR-ABL1 KD突变筛查的金标准， 但近年来二代测序(NGS)也被用于回顾性研究。 

研究人员开展一前瞻性多中心研究评估低水平突变的频率和临床相关性，以及在常规情况下基于NGS的BCR-ABL1突变筛查的可行性、成本和周转时间。 招募了236位TKI疗法失败（124位）或有报警反应（112位）的CML患者，同时用SS和NGS进行分型。 

51位（22位女性）用SS检测为突变阴性的患者，NGS检测到低水平突变。此外，SS检测报告突变阳性的60位患者中有29位 (27位女性) 存在额外的低水平突变。 因此，在80/236位(34%)患者中发现了SS检测不到的突变，其中，42位（18%）携带低水平的与临床决策相关的突变。对突变动力学的前瞻性监测表明RKI耐受性低水平突变是被选择的，如果患者没有改用其他TKI或他们选择了不合适的TKI或TKI剂量。

本研究首次证实了低水平突变的临床发病率，支持将以NGS为基础的BCR-ABL1 KD突变筛查纳入临床决策算法。

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    2020-08-30 fangcong

    #髓系白血病#

    0

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    2020-04-21 常春藤0702

    好

    0

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    2020-10-30 12498717m66(暂无昵称)

    #BCR-ABL1#

    0

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    2019-12-29 wangbingxhy

    #二代测序#

    0

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    2019-12-29 jmtang

    #慢性髓系白血病#

    0

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淋巴瘤的病理诊断对于规范化诊疗至关重要，近年来NGS的应用也越发普遍。2017年11月3-5日召开的第四届天津血液肿瘤高峰论坛上，【肿瘤资讯】有幸采访到来自中国医学科学院血液病医院（天津血液研究所）的汝昆教授。汝教授介绍了NGS在淋巴瘤诊断、预后判断及治疗指导中的运用，同时也对血液肿瘤病理诊断的发展做出展望。

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