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[FLT3-ITD突变阳性急性髓性白血病在复发时经历了PTPN11突变的克隆过渡]

Kazuya Kurihara¹, Daichi Sadato^2,3, Yuho Najima¹

¹Hematology Division, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital.

[Rinsho ketsueki] The Japanese journal of clinical hematology

|March 6, 2024

概括

这项案例研究强调了一名患有急性骨髓单细胞白血病的患者,由于FLT3-ITD突变损失和PTPN11突变获得,该患者对吉尔特利尼布产生了耐药性,这强调了在白血病治疗中基因监测的重要性.

科学领域:

血液学血液学血液学
在瘤学瘤学.
分子生物学分子生物学

背景情况:

急性髓性单细胞白血病 (AMML) 是一种具有攻击性的血液性恶性瘤.
FLT3-ITD突变在AMML中很常见,并且与预后不佳有关.
吉尔特里尼布是一种针对FLT3突变AMML的向治疗.

研究的目的:

报告一个AMML病例与治疗相关的克隆进化和耐药性.
为了研究基因机制背后的复发在吉尔特利尼布治疗后.
突出序列遗传分析在白血病管理中的重要性.

主要方法:

使用骨髓吸收来诊断AMML和监测缓解.
伴随诊断和下一代测序用于突变检测 (FLT3-ITD,PTPN11).
用诱导化疗,吉尔特里尼布,全原干细胞移植和救援化疗进行治疗.

主要成果:

通过诱导疗法获得初始CR,随后复发.
吉尔特利尼布单一治疗导致CR,但随后发生了复发.
在进展后观察到FLT3-ITD突变的丧失和PTPN11突变的获得.
救援化疗实现了CR,但患者最终死于复发.

结论:

克隆进化随着FLT3-ITD的丧失和PTPN11突变的增加,可以在AMML中驱动吉尔特里尼布耐药性.
序列遗传分析对于理解治疗耐药性和指导治疗至关重要.
了解抵抗机制对于改善复发性/耐药性白血病的结果至关重要.

关键词:

急性骨髓性白血病 (AML) 是一种急性骨髓性白血病.克隆过渡克隆过渡类似FMS的铁氨酸激酶3 (FLT3) 发生.蛋白质氨酸酸酶非受体类型11 (PTPN11)

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