PDF(Pubmed)
Abstract：
Chordomas, arising from notochord remnants, are rare neoplasms with aggressive growth patterns despite their histologically low-grade nature. This review explores their embryological origins, molecular markers like brachyury, and genetic alterations driving pathogenesis. Diagnosis relies on advanced imaging and biopsy confirmation due to overlapping features with chondrosarcoma. The WHO classification distinguishes conventional, dedifferentiated, and poorly differentiated chordomas, each with distinct prognostic implications. Recent genomic analyses uncovered recurrent mutations in PI3K signaling pathways and chromatin remodeling genes, informing prognostic models. Surgery remains the cornerstone of treatment, though adjuvant radiation complements surgical resection. Although chordomas are generally considered refractory to medical therapy, emerging targeted molecular strategies show potential promise in ongoing trials. This review aims to provide a concise yet comprehensive overview of chordomas, guiding clinicians in diagnosis, treatment, and prognostication for improved patient outcomes.
摘要：
脊索瘤,从脊索残留物中产生的，是罕见的肿瘤，尽管它们的组织学性质低，但具有积极的生长模式。这篇综述探讨了它们的胚胎学起源，像brachyury这样的分子标记，和遗传改变驱动发病机制。由于与软骨肉瘤重叠的特征，诊断依赖于先进的成像和活检确认。世界卫生组织的分类区分了传统的，去分化,和低分化的脊索瘤，每个都有不同的预后意义。最近的基因组分析揭示了PI3K信号通路和染色质重塑基因的复发突变，告知预后模型。手术仍然是治疗的基石，虽然辅助放射是手术切除的补充。虽然脊索瘤通常被认为是药物治疗难治的，新兴的靶向分子策略在正在进行的试验中显示出潜在的前景.这篇综述旨在提供一个简洁而全面的脊索瘤概述，指导临床医生诊断，治疗,和改善患者预后的预测。
