一名老年患者的鼻腔未成熟畸胎瘤:临床病理学和表观遗传学与中枢神经系统同类疾病的相似之处,以及基因组差异。

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-10-02 DOI:10.1111/neup.13008
Shintaro Inoue, Hirokazu Takami, Shota Tanaka, Masashi Nomura, Shunsaku Takayanagi, Yuki Saito, Shu Kikuta, Kenji Kondo, Reiko Matsuura, Masako Ikemura, Sho Yamazawa, Masao Matsutani, Ryo Nishikawa, Yuko Matsushita, Koichi Ichimura, Nobuhito Saito
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引用次数: 0

摘要

生殖细胞瘤(GCT)根据起源可分为性腺肿瘤和性腺外肿瘤。性腺外生殖细胞瘤主要发生在中枢神经系统(CNS)、纵隔、腹膜后和骶尾部。这些恶性肿瘤最常在儿童、青少年和青年人群中确诊。鼻腔内的 GCT 发病率明显较低,仅有 6 例记录在案。本报告详细介绍了一名 70 岁男性的病例,他出现左侧鼻腔肿块,最终被诊断为未成熟畸胎瘤。该病例的一个显著特点是通过免疫组化分析发现了 SMARCA4 (BRG1) 缺失。此外,甲基化分析将该病例与中枢神经系统 GCTs(特别是那些被归类为非肉芽肿性 GCTs 的病例)相一致。这种分子特征描述为结合卡铂和依托泊苷以及局部照射的定制治疗策略提供了依据。这种个体化治疗方案取得了良好的疗效,患者在三年多的时间里没有复发。这凸显了在治疗鳞状上皮外 GCT,尤其是那些发生在非典型解剖部位的 GCT 时,需要采用精确的治疗方法。本病例强调了对罕见的 GCT 表现进行全面诊断评估和定制治疗方案的重要性。我们有必要开展进一步的实证和临床研究,以加深对此类特殊病例的了解并完善治疗方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences.

Germ cell tumors (GCTs) are categorized as gonadal or extra-gonadal, based on the origin. Extra-gonadal GCTs predominantly manifest within the central nervous system (CNS), mediastinum, retroperitoneum, and sacrococcygeal region. These malignancies are most frequently diagnosed in the pediatric, adolescent, and young adult demographics. Incidences of GCT within the nasal cavity are notably scarce, with only six cases documented. This report details the case of a 70-year-old man who presented with a left nasal mass ultimately diagnosed as immature teratoma. A remarkable aspect of this case was the detection of SMARCA4 (BRG1) loss through immunohistochemical analysis. In addition, methylation profiling aligned this case with CNS GCTs, specifically those classified as non-germinomatous GCTs. This molecular characterization informed a tailored therapeutic strategy incorporating carboplatin and etoposide, alongside localized irradiation. This individualized treatment regimen achieved favorable outcomes, with the patient remaining recurrence free for over three years. This highlights the need for precise therapeutic approaches in the management of extragonadal GCTs, particularly those arising in atypical anatomical locations. The present case accentuates the significance of thorough diagnostic evaluations and customized treatment plans for rare GCT presentations. Further empirical and clinical investigations are warranted to enhance our understanding of and refine therapeutic protocols for such exceptional cases.

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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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