IJLH:219例伴有染色体异常和/或酪氨酸激酶域突变的慢性髓样白血病患者的结局

2019-06-02 不详 网络

为了证实附加染色体异常(ACAs)和激酶域(KD)突变在慢性髓系白血病(CML)患者进展和预后中的作用以及两者之间的联系,我们分析了住院的219例CML患者的ACAs和KD突变。 研究人员对中期进行细胞遗传学分析以检测ACAs,并对BCR‐ABL1 KD进行测序以检测KD突变。 研究发现,24例患者(11.0%)除BCR‐ABL1或t(9;22)(q34;q11)易位外,还有ACAs。

为了证实附加染色体异常(ACAs)和激酶域(KD)突变在慢性髓系白血病(CML)患者进展和预后中的作用以及两者之间的联系,我们分析了住院的219CML患者的ACAsKD突变。

研究人员对中期进行细胞遗传学分析以检测ACAs,并对BCRABL1 KD进行测序以检测KD突变。

研究发现,24例患者(11.0%)BCRABL1t(9;22)(q34;q11)易位外,还有ACAs。最常见的异常是8号染色体三体。53例伊马替尼耐药患者中有13(24.5%)出现12KD突变。p.(Y235H) (n = 3;23.07%) p.(F359V)p.(T315I) (n = 2;15.38%)出现频率最高。KD突变亚型(p.(E255K)p.(T315I)p.(F359V)p.(M244V)p.(L298V)ACAs共存。CML进展的发病率是12/22(54.5%)的患者留住和/KD突变和2/143(1.4%)的患者没有留住或KD突变(CI 95%, P < 0.001), KD突变组高于留住组(P = 0.046)。有ACAs/KD突变的患者组男性多于无ACAs/KD突变的患者组(P = 0.013)

研究表明,ACAs/KD突变与CML进展相关,是预后不良的因素。它们的存在表现出性别差异,在男性中更为常见。当ACAsKD突变共存时,p.(E255K)p.(T315I)p.(F359V)p.(M244V)p.(L298V)更频繁地出现。

原始出处:

Mingming Xue, Juan Cheng ,Outcomes of 219 chronic myeloid leukaemia patients with additional chromosomal abnormalities and/or tyrosine kinase domain mutations

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    2019-06-04 redcrab