基于帕博西尼方案治疗获得完全缓解的 CDK4 扩增脊髓星形细胞瘤难治病例报告：一例病例报告
A refractory case of CDK4-amplified spinal astrocytoma achieving complete response upon treatment with a Palbociclib-based regimen:a case report.
机构信息
Oncology Center, the First Affiliated Hospital of Guangzhou University of Chinese Medicine, 16th Airport Road, Guangzhou, 510405, Guangdong, China.
Guangzhou University of Chinese Medicine, 12th Airport Road, Guangzhou, 510405, Guangdong, China.
出版信息
BMC Cancer. 2020 Jul 8;20(1):630. doi: 10.1186/s12885-020-07061-3.
BACKGROUND
Spinal cord astrocytoma is a rare neoplasm, and patients usually recur within months after surgery. There is currently a lack of consensus regarding post-operative treatment. Clinical data on the activity of systemic treatment like chemoradiotherapy and anti-angiogenic agents also remained scant. Next-generation sequencing (NGS) -based genomic profiling thus may help identify potential treatment options for a subset of patients that harbor actionable genetic alterations.
CASE PRESENTATION
We reported for the first time a refractory case of grade III spinal cord astrocytoma that underwent two surgeries but eventually progressed following post-operative chemoradiotherapy plus bevacizumab. Hybridization capture-based NGS using a 381-gene panel disclosed cyclin dependent kinase 4 (CDK4) amplification and after receiving a triplet regimen containg palbociclib for 15 months, the patient achieved complete response.
CONCLUSIONS
This case demonstrated the importance of genetic profiling and the benefit of a multi-modality treatment strategy in cancer management.
背景
脊髓星形细胞瘤是一种罕见的肿瘤，患者通常在手术后数月内复发。目前对于术后治疗尚无共识。有关放化疗和抗血管生成药物等系统治疗的临床数据也很少。基于下一代测序（NGS）的基因组分析可能有助于为携带可治疗性遗传改变的患者确定潜在的治疗选择。
病例介绍
我们首次报告了一例 3 级脊髓星形细胞瘤的难治性病例，该患者接受了两次手术，但在术后放化疗联合贝伐单抗治疗后最终进展。使用 381 个基因panel 的杂交捕获 NGS 揭示 cyclin dependent kinase 4 (CDK4) 扩增，在接受包含 palbociclib 的三联疗法治疗 15 个月后，患者达到完全缓解。
结论
该病例表明了基因分析的重要性以及癌症管理中多模式治疗策略的获益。
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