成人内耳道出现多层玫瑰花结的胚胎肿瘤:分子研究的例证病例。

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-02 DOI:10.1111/neup.12951
Adam Sheriff, Hirokazu Takami, Shunsaku Takayanagi, Yosuke Kitagawa, Shota Tanaka, Masako Ikemura, Reiko Matsuura, Yuko Matsushita, Koichi Ichimura, Nobuhito Saito
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引用次数: 0

摘要

具有多层玫瑰花结的胚胎肿瘤(ETMR)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,我们描述了成年患者首次发生的ETMR,它也起源于内耳道(IAC)的新位置。这位36岁的患者最初表现为不稳定、复视和耳鸣。IAC的肿瘤是在脑磁共振成像上发现的,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射治疗,并接受了由异环磷酰胺、顺铂和依托泊苷四个周期组成的辅助化疗。进展迅速;然而,病人存活了22年 确诊数月后才死于疾病。分子研究显示,外显子25处有DICER1突变,甲基化分类将肿瘤归类为ETMR,非C19MC替代。该病例强调了ETMR、DICER1突变的多种可能表现,以及分子技术对表征和及时治疗非典型ETMR的重要性。
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Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations.

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.

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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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