INT J LAB HEMATOL：219例慢性髓系白血病合并染色体异常和/或酪氨酸激酶域突变的结果

2019-01-27 MedSci MedSci原创

为了证实额外的染色体异常(ACAs)和激酶域(KD)突变在慢性髓系白血病(CML)患者进展和结局中的作用及其相互关系，研究人员分析了他们医院219例CML患者的ACAs和KD突变情况。研究人员通过中期细胞遗传学分析检测ACAs，通过测序BCR ABL1 KD检测KD突变。结果显示24例患者(11.0%)发生ACAs, BCR ABL1或t(9;22)(q34;q11)易位。最常见的异常是8

为了证实额外的染色体异常(ACAs)和激酶域(KD)突变在慢性髓系白血病(CML)患者进展和结局中的作用及其相互关系，研究人员分析了他们医院219例CML患者的ACAs和KD突变情况。研究人员通过中期细胞遗传学分析检测ACAs，通过测序BCR ABL1 KD检测KD突变。

结果显示24例患者(11.0%)发生ACAs, BCR ABL1或t(9;22)(q34;q11)易位。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13例(24.5%)观察到12种不同的KD突变。p.(Y235H) (n = 3;23.07%)， p.(F359V)及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)和p.(L298V))与ACAs共存。CML进展的发病率是12/22(54.5%)的患者留住和/或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)。ACAs和/或KD突变组的男性多于无ACAs和/或KD突变组(P = 0.013)。

研究结果表明ACAs和/或KD突变与CML进展相关，是不良预后因素。它们的存在表现出性别差异，在男性中更为常见。当ACAs和KD突变同时存在时，p.(E255K)、p.(T315I)、p.(F359V)、p.(M244V)和p.(L298V)出现的频率更高。

原始出处：

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

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2019-07-21 fangcong

#髓系白血病#

52 0
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2019-08-09 12498f1em08(暂无昵称)

#染色体异常#

66 0
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2019-09-24 luckyshitiancai_42705695

#酪氨酸激酶#

63 0
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2019-01-29 fengyi812

#EMA#

48 0
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2019-01-29 新生儿张玉军

#染色体#

69 0
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2019-01-29 jmtang

#慢性髓系白血病#

68 0
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2019-01-29 redcrab

#激酶#

95 0
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2019-01-28 wxl882001

了解一下

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INT J LAB HEMATOL：219例慢性髓系白血病合并染色体异常和/或酪氨酸激酶域突变的结果

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