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病例报告:在一名对舒尼替尼敏感的复发性多发性脑膜瘤患者中鉴定出一种新突变及1p/22q共缺失

Case Report: Identification of a Novel Mutation and 1p/22q Co-Deletion in a Patient With Multiple Recurrent Meningiomas Sensitive to Sunitinib.

作者信息

Hong Weiping, Shan Changguo, Ye Minting, Yang Yanying, Wang Hui, Du Furong, Zhang Xing, Song Chao, Cai Linbo

机构信息

Department of Oncology, Guangdong sanjiu Brain Hospital, Guangzhou, China.

The State Key Laboratory of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, China.

出版信息

Front Oncol. 2021 Oct 15;11:737523. doi: 10.3389/fonc.2021.737523. eCollection 2021.

Abstract

BACKGROUND

Although surgical resection can cure the majority of meningiomas, there are still approximately 20% of patients suffering from an aggressive course with recurrence or progression. In this study, we reported a novel mutation and 1p/22q co-deletion responding to sunitinib in a patient with multiple recurrent meningiomas.

CASE PRESENTATION

A 53-year-old woman with meningioma was hospitalized due to postoperative tumor progression for 3 weeks. WHO grade I meningioma was pathologically diagnosed after the first three surgeries, but the second recurrence occurred approximately 3 years following the third surgery. Next-generation sequencing was performed on the first two recurrent samples. mutations and 1p/22q co-deletion were both identified, and amplification at 17q and chromosome 19 was also found in the second recurrent sample, based on which WHO grade II/III meningioma was diagnosed. The lesion in the left cerebellopontine angle area enlarged after use of radiotherapy combined with temozolomide chemotherapy for 2 months. When sunitinib was added, the residual lesions began to lessen and continuously reduced.

CONCLUSION

This typical case suggested that timely molecular diagnosis for refractory meningiomas contributed to guiding the molecular classification and clinicians to make more reasonable individualized therapeutic regimens, consequently benefiting the patients. This case report also highlighted the potential role of sunitinib in the treatment of refractory meningiomas.

摘要

背景

尽管手术切除可治愈大多数脑膜瘤,但仍有约20%的患者病程呈侵袭性,出现复发或进展。在本研究中,我们报告了1例多发复发性脑膜瘤患者存在对舒尼替尼有反应的新型突变及1p/22q共缺失。

病例介绍

一名53岁的脑膜瘤女性患者因术后肿瘤进展3周入院。前三例手术后病理诊断为世界卫生组织(WHO)I级脑膜瘤,但第三次手术后约3年出现第二次复发。对前两次复发样本进行了二代测序。发现了突变及1p/22q共缺失,且在第二次复发样本中还发现了17q和19号染色体的扩增,据此诊断为WHO II/III级脑膜瘤。在使用放疗联合替莫唑胺化疗2个月后,左侧桥小脑角区病变增大。加用舒尼替尼后,残余病变开始缩小并持续减小。

结论

这一典型病例表明,对难治性脑膜瘤进行及时的分子诊断有助于指导分子分型,使临床医生制定更合理的个体化治疗方案,从而使患者受益。本病例报告还突出了舒尼替尼在难治性脑膜瘤治疗中的潜在作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6f5d/8554081/99b3707f658e/fonc-11-737523-g001.jpg

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