一份为期5年的中国纵向病例报告,涉及脊柱帕杰特病恶性转变
Yu Wang1, Linlin Zhang, Huilin Yang
1Department of Orthopaedics, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Medicine
|February 3, 2026
概括
有关脊髓的帕杰特骨病 (PDB) 很少会转化为攻击性的帕杰特肉瘤. 性酸酶 (ALP) 快速激增和双SQSTM1/ZNF687突变可能表明这种恶性转变,需要保持警.
科学领域:
- 在瘤学瘤学.
- 整形外科 整形外科 整形外科
- 遗传学 是一个遗传学.
背景情况:
- 帕杰特骨病 (PDB) 是一种代谢障碍,恶性转变为骨髓瘤的风险低于1%,特别是在脊髓透的情况下.
- 从其他侵略性病变中区分脊柱帕杰特肉瘤是具有挑战性的,在亚洲人群中预后数据有限.
- 双重SQSTM1和ZNF687突变以及快速性酸酶 (ALP) 激增在恶性转变中的作用需要进一步阐明.
研究的目的:
- 在有PDB病史的患者中报告脊柱帕杰特肉瘤病例.
- 突出 PDB 中恶性转变的潜在指标.
- 强调早期诊断和脊柱帕杰特肉瘤的干预的重要性.
主要方法:
- 一个患有PDB的神经系统恶化的病人的病例报告.
- 诊断基于临床过程,连续成像,显著的ALP上升 (>800 U/L至3100 U/L),并确认了双重SQSTM1和ZNF687突变.
- 患者接受了手术干预,向治疗和急诊治疗后的支持性护理,以快速神经衰退.
主要成果:
- 患者呈现出渐进的脊柱症状和急性神经系统恶化.
- 尽管进行了干预,但观察到功能迅速下降,下肢强度显著下降.
- 由于家人决定不披露信息,患者的生存状况仍然未知.
结论:
- 快速增加的ALP,特别是SQSTM1和ZNF687突变,可能标志着PDB患者的恶性病变.
- 提高临床警,基因监测和考虑早期活检对于及时干预至关重要.
- 这一案例强调了脊柱PDB恶性转变的罕见性和破坏性潜力.
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