Landvater Ryan, Tripathy Arushi, Nieblas-Bedolla Edwin, Shao Lina, Conway Kyle, Al-Holou Wajd, Ferris Sean P
Department of Pathology, University of Michigan Medical School, 2800 Plymouth Road, Ann Arbor, MI, 48109, USA.
Department of Neurosurgery, University of Michigan Medical School, 1500 E Medical Center Drive, Ann Arbor, MI, 48109, USA.
Acta Neuropathol Commun. 2024 Dec 20;12(1):196. doi: 10.1186/s40478-024-01908-7.
The mesenchymal transformations of infiltrating gliomas are uncommon events. This is particularly true of IDH-mutant astrocytomas and oligodendrogliomas, in which mesenchymal transformation is exceedingly rare. oligosarcoma is a newly recognized methylation class (MC) that represents transformed 1p/19q co-deleted oligodendrogliomas, but recent studies indicate it may be non-specific. Herein we report the diffuse sarcomatous transformation of a multifocal recurrent astrocytoma from a precursor IDH-mutant astrocytoma, CNS WHO grade 3, in a young patient following embolization therapy and matching to MC oligosarcoma. The sarcomatous recurrence and original tumor showed identical 17q breakpoints with loss of heterozygosity of TP53. Both lack the defining 1p/19q co-deletion or copy-neutral heterozygosity of an oligodendroglioma and oligosarcoma. The findings in this case report both contribute to the apparent heterogeneity of the novel MC oligosarcoma and describe a second reported mesenchymal transformation of an IDH-mutant astrocytoma.
浸润性胶质瘤的间充质转化是罕见事件。对于异柠檬酸脱氢酶(IDH)突变型星形细胞瘤和少突胶质细胞瘤尤其如此,其中间充质转化极为罕见。少突肉瘤是一种新认识的甲基化类别(MC),代表转化的1p/19q共缺失少突胶质细胞瘤,但最近的研究表明它可能不具有特异性。在此,我们报告了一名年轻患者在栓塞治疗后,源自IDH突变型星形细胞瘤(中枢神经系统WHO 3级)的多灶性复发性星形细胞瘤发生弥漫性肉瘤样转化,并与MC少突肉瘤相匹配。肉瘤样复发灶和原发肿瘤显示相同的17号染色体长臂断点,伴有TP53杂合性缺失。两者均缺乏少突胶质细胞瘤和少突肉瘤定义性的1p/19q共缺失或拷贝中性杂合性。本病例报告中的发现既有助于新的MC少突肉瘤明显的异质性,也描述了IDH突变型星形细胞瘤的第二例报告的间充质转化。