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奥拉帕利联合替莫唑胺治疗小儿神经母细胞瘤,2 年持久缓解。

Treatment of Pediatric Glioblastoma with Combination Olaparib and Temozolomide Demonstrates 2-Year Durable Response.

机构信息

Federal State Autonomous Institution, N. N. Burdenko National Medical Research Center of Neurosurgery of the Ministry of Health of the Russian Federation, Moscow, Russia.

Section of Pediatric Hematology-Oncology, Department of Pediatrics, Wake Forest School of Medicine, Winston-Sale, North Carolina, USA.

出版信息

Oncologist. 2020 Feb;25(2):e198-e202. doi: 10.1634/theoncologist.2019-0603. Epub 2019 Oct 16.

Abstract

For pediatric patients with high-grade gliomas, standard-of-care treatment includes surgery, chemotherapy, and radiation therapy; however, most patients ultimately succumb to their disease. With advances in genomic characterization of pediatric high-grade gliomas, the use of targeted therapies in combination with current treatment modalities offer the potential to improve survival in this patient population. In this report, we present the case of a 3-year-old girl with glioblastoma who continues to experience an exceptional and durable response (>2 years) to the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib. Our patient presented with persistent and progressive seizure activity that upon workup was the result of a large heterogeneously enhancing, mixed cystic and solid mass in the left frontal-parietal-temporal region. Histopathologic analysis of resected tumor tissue confirmed the diagnosis of glioblastoma, and comprehensive genomic profiling demonstrated absence of any BRAF or H3F3A mutations. Genomic profiling, however, did reveal a probable germline heterozygous BRCA2 Lys3326Ter (K3226*) nonsense variant. After debulking surgery, the patient received standard-of-care treatment with radiation and temozolomide. Nine months later the PARP inhibitor olaparib was administered in combination with temozolomide for 16 cycles. This regimen was well tolerated by the patient and serial imaging showed reduction in tumor size. Since completion of the regimen, the patient remains neurologically intact with no evidence of tumor recurrence. To our knowledge, this represents the first case of a pediatric glioblastoma that maintains a durable response to a therapeutic strategy that included the PARP inhibitor olaparib and more generally highlights the potential clinical utility of incorporating these agents into the treatment of pediatric high-grade gliomas. KEY POINTS: Germline mutations detected in pediatric gliomas may represent a cancer predisposition syndrome. Integrating molecular testing into routine clinical care for pediatric patients with glioma is critical to identify therapeutic targets and patients with a cancer predisposition syndrome. Patients with glioma with defects in DNA repair pathway components (e.g., BRCA1/2) may show increased responsiveness to poly (ADP-ribose) polymerase (PARP) inhibitors. Combining PARP inhibitors with temozolomide (standard-of-care treatment) revealed no adverse events or toxicities over the course of 18 months.

摘要

对于患有高级别神经胶质瘤的儿科患者,标准治疗包括手术、化疗和放射治疗;然而,大多数患者最终仍会死于该疾病。随着儿科高级别神经胶质瘤的基因组特征的进步,靶向治疗与当前治疗方式的结合为改善该患者群体的生存率提供了可能。在本报告中,我们介绍了一例 3 岁女孩的病例,她在接受聚(ADP-核糖)聚合酶(PARP)抑制剂奥拉帕利治疗后,继续表现出异常和持久的反应(>2 年)。该患者表现为持续性和进行性癫痫发作,经检查发现左额顶颞叶区有一个大的异质性增强、混合囊性和实性肿块。切除肿瘤组织的组织病理学分析证实了胶质母细胞瘤的诊断,全面的基因组分析显示没有任何 BRAF 或 H3F3A 突变。然而,基因组分析确实显示了一种可能的种系杂合 BRCA2 赖氨酸 3326 终止(K3326*)无意义变异。在肿瘤减灭手术后,患者接受了标准的放射治疗和替莫唑胺治疗。9 个月后,奥拉帕利联合替莫唑胺治疗 16 个周期。该方案患者耐受良好,连续影像学检查显示肿瘤体积缩小。自该方案完成以来,患者神经功能完整,无肿瘤复发迹象。据我们所知,这是首例儿科胶质母细胞瘤患者对包括 PARP 抑制剂奥拉帕利在内的治疗策略保持持久反应的病例,更广泛地强调了将这些药物纳入儿科高级别神经胶质瘤治疗的潜在临床应用。要点:在儿科胶质瘤中检测到的种系突变可能代表一种癌症易感性综合征。将分子检测纳入儿科胶质瘤患者的常规临床护理中对于确定治疗靶点和癌症易感性综合征患者至关重要。具有 DNA 修复途径成分缺陷(例如,BRCA1/2)的胶质瘤患者可能对聚(ADP-核糖)聚合酶(PARP)抑制剂显示出更高的反应性。在 18 个月的时间里,PARP 抑制剂联合替莫唑胺(标准治疗)没有发现不良反应或毒性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d99/7011619/c12c05711a24/ONCO-25-e198-g001.jpg

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