病例报告:同时存在的慢性骨髓性白血病和慢性骨髓单细胞性白血病-A临床重要但具有挑战性的场景
Jinming Song1, Lynn Moscinski1, Ling Zhang1
1Department of Hematopathology, Moffitt Cancer Center, 12902 USF Magnolia Drive, Tampa, FL 33612, United States of America.
Leukemia research reports
|July 7, 2023
概括
在慢性骨髓性白血病 (CML) 患者中诊断慢性骨髓性白血病 (CMML) 可能具有挑战性. 骨髓突变的下一代测序 (NGS) 有助于识别持久单细胞化CML患者同时存在的CMML.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 分子诊断学 分子诊断学
背景情况:
- 慢性骨髓性白血病 (CML) 和慢性骨髓单细胞性白血病 (CMML) 是不同的骨髓性瘤.
- 这两种情况都可能出现重叠的临床和形态特征,使诊断复杂化.
- 氨酸激酶抑制剂 (TKIs) 是CML的标准治疗方法.
研究的目的:
- 突出CML与CMML区分的诊断挑战.
- 提出一个CMML与CML共存的案例.
- 强调下一代测序 (NGS) 在诊断并发性骨髓瘤中的实用性.
主要方法:
- 一个患者的病例报告最初被诊断为CML,并用TKI治疗.
- 连续骨髓活检的分析.
- 下一代测序 (NGS) 用于骨髓的突变概况.
主要成果:
- 尽管为CML接受了TKI治疗,但患者仍出现了持续的单细胞和血小板缺血.
- 骨髓活检显示了CML的分子证据,但也显示了CMML的特征,包括高细胞性和巨核细胞失育症.
- NGS发现了一些关键突变 (SRSF2,TET2,RUNX1),这些突变表明CMML.
结论:
- 在TKI治疗的CML患者中,持续的单细胞和细胞衰减需要进一步的研究.
- 基于NGS的突变分析对于识别CML患者共存的CMML至关重要.
- 通过分子方法进行准确的诊断对于适当管理复杂的髓状瘤至关重要.
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