从慢性骨髓性白血病演变的红色素变体对多种氨酸激酶抑制剂有抗性:一个罕见的病例报告
Michelle Hyunju Lee1, Amy Song2, Julie Y Li3
1Department of Medical Oncology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.
Diagnostic pathology
|January 24, 2024
概括
慢性骨髓性白血病 (CML) 的一种罕见的红色素变体在一个对氨酸激酶抑制剂 (TKIs) 耐药的患者中出现. 这种变异显示BCR::ABL1融合基因在红色素前体中,而不是粒细胞中.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 慢性髓性白血病 (CML) 通常涉及由于BCR::ABL1融合基因的粒细胞增殖.
- 对氨酸激酶抑制剂 (TKIs) 耐药的患者可能会发展为晚期CML.
- 红色质性CML的变种是非常罕见的.
研究的目的:
- 报告CML的红色素质变体的一个独特病例.
- 为了在TKI耐药患者中表征这种变异.
- 为了区分这种实体与其他髓状瘤.
主要方法:
- 一个33岁的女性CML患者的病例介绍,患有TKI耐药性和全细胞衰减.
- 骨髓活检分析揭示了红色素激素增生症和逆转的M:E比率.
- 细胞遗传学分析 (造型定型,RT-qPCR,NGS) 检测BCR::ABL1融合和突变.
主要成果:
- 患者表现出显著的红状腺增生 (90%的骨髓细胞性) 与1:10的M:E比率.
- 在95%的细胞中证实了t(9;22)(q34;q11.2) 的型.
- 通过RT-qPCR和NGS检测到红色素前体中的BCR::ABL1融合转录 (p210异型).
- 没有发现额外的细胞遗传异常或ABL1激酶域突变.
结论:
- 红色素瘤CML的红色素瘤变体是通过BCR::ABL1在不同成熟阶段的红色素瘤前体中定义的.
- 准确的诊断需要将形态与细胞遗传检测对t的相关性测试.
- 这种实体必须与CML中的红色素质爆发危机区分开来.
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