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成人内耳道中具有多层玫瑰花结的胚胎性肿瘤:伴有分子研究的说明性病例。

Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations.

机构信息

Guy's, King's and St Thomas' (GKT), King's College London, London, UK.

Department of Neurosurgery, The University of Tokyo Hospital, Tokyo, Japan.

出版信息

Neuropathology. 2024 Jun;44(3):208-215. doi: 10.1111/neup.12951. Epub 2023 Nov 2.

Abstract

Embryonal tumors with multilayered rosettes (ETMRs) are aggressive central nervous system (CNS) tumors that usually occur in young children. Here, we describe the first incidence of ETMR in an adult patient that also originated in the novel location of the internal auditory canal (IAC). The 36-year-old patient initially presented with unsteadiness, diplopia, and tinnitus. The tumor in the IAC was discovered on brain magnetic resonance imaging, and gross total resection was performed followed by pathological and molecular diagnosis. The patient received whole brain and spinal cord radiotherapy after an intracranial recurrence and adjuvant chemotherapy consisting of four cycles of ifosfamide, cisplatin, and etoposide. Progression was rapid; however, the patient survived for 22 months after diagnosis before succumbing to the disease. Molecular investigation revealed a DICER1 mutation at exon 25, and methylation classification categorized the tumor as ETMR, non-C19MC-altered. This case underscores the diverse possible presentations of ETMR, DICER1-mutated and the importance of molecular techniques to characterize and promptly treat atypical ETMR.

摘要

具有多层玫瑰花结的胚胎性肿瘤(ETMRs)是一种侵袭性中枢神经系统(CNS)肿瘤,通常发生在幼儿中。在这里,我们描述了首例发生于成年人且起源于新颖部位——内听道(IAC)的 ETMR。这位 36 岁的患者最初表现为不稳定、复视和耳鸣。在脑磁共振成像上发现了位于 IAC 的肿瘤,并进行了大体全切除,随后进行了病理和分子诊断。患者在颅内复发后接受了全脑和脊髓放疗,并进行了包含 4 个周期异环磷酰胺、顺铂和依托泊苷的辅助化疗。病情进展迅速;然而,该患者在确诊后存活了 22 个月,最终死于该疾病。分子研究显示 25 号外显子存在 DICER1 突变,甲基化分类将肿瘤归类为 ETMR,非 C19MC 改变型。该病例强调了 ETMR、DICER1 突变的多种可能表现形式以及分子技术在特征描述和及时治疗非典型 ETMR 方面的重要性。

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