Pujadas Elisabet, Chen Liam, Weingart Jon D, Orr Brent, Ozer Bryam H, Holdhoff Matthias, Rodriguez Fausto J
Clin Neuropathol. 2020 Jul/Aug;39(4):179-187. doi: 10.5414/NP301240.
Ependymosarcomas are rare, biphasic tumors composed of ependymal and sarcomatous components. Due to their rarity, their biologic basis is not well understood. We report the case of a 38-year-old male with anaplastic ependymoma (WHO grade III) that progressed to ependymosarcoma in less than 2 years after multiple resections, chemoradiotherapy, and anti-PD1 immunotherapy. Next-generation sequencing was performed on both high-grade anaplastic ependymoma and ependymosarcoma samples to detect small base changes, insertions, and deletions in exons and splice junctions from a panel of over 400 genes. We identify genetic variants in the tumor suppressors , , and in these samples and discuss the potential significance of an additional genetic variant in the progression to ependymosarcoma.
室管膜肉瘤是一种罕见的双相性肿瘤，由室管膜和肉瘤成分组成。由于其罕见性，其生物学基础尚未得到充分了解。我们报告了一例38岁男性，患有间变性室管膜瘤（世界卫生组织III级），在多次切除、放化疗和抗PD1免疫治疗后不到2年进展为室管膜肉瘤。对高级别间变性室管膜瘤和室管膜肉瘤样本进行了二代测序，以检测来自400多个基因的外显子和剪接连接处的小碱基变化、插入和缺失。我们在这些样本中鉴定出肿瘤抑制基因、和中的遗传变异，并讨论了另一个遗传变异在进展为室管膜肉瘤中的潜在意义。
