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辐射诱导的颅内未分化多形性肉瘤的基因组特征

Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma.

作者信息

Hong Christopher S, Partovi Edwin, Clune James, Huttner Anita, Park Henry S, Omay Sacit Bulent

机构信息

Department of Neurosurgery, Yale School of Medicine, New Haven 06511, CT, USA.

Department of Pathology, Yale School of Medicine, New Haven 06511, CT, USA.

出版信息

Case Rep Genet. 2021 Mar 8;2021:5586072. doi: 10.1155/2021/5586072. eCollection 2021.

Abstract

Intracranial undifferentiated pleomorphic sarcoma remains a rare pathology within the sarcoma literature that may arise primarily or secondary after radiation therapy. Despite first-line treatment with maximal surgical resection, followed by nonstandardized adjuvant chemotherapy/radiation regimens, clinical prognosis remains exceedingly poor. Furthermore, there is a lack of genetic or molecular characterization to guide potential for targeted therapies. We present genomic analysis of a radiation-induced intracranial undifferentiated pleomorphic sarcoma in an 83-year-old woman with notable KIT and PDGFRA alterations. Further similar genomic studies of intracranial pleomorphic sarcoma are needed to develop better therapies for this rare but challenging disease entity.

摘要

颅内未分化多形性肉瘤在肉瘤文献中仍然是一种罕见的病理类型,可原发出现,也可在放射治疗后继发出现。尽管一线治疗采用了最大程度的手术切除,随后采用了非标准化的辅助化疗/放疗方案,但临床预后仍然极差。此外,缺乏基因或分子特征来指导靶向治疗的潜力。我们报告了一名83岁女性辐射诱发的颅内未分化多形性肉瘤的基因组分析,该病例存在显著的KIT和PDGFRA改变。需要对颅内多形性肉瘤进行进一步类似的基因组研究,以开发针对这种罕见但具有挑战性的疾病实体的更好治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d05/7960067/54fab6931c83/CRIG2021-5586072.001.jpg

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