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老年患者的鼻腔未成熟畸胎瘤:与中枢神经系统同类肿瘤的临床病理及表观遗传学相似性,以及基因组差异。

Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences.

作者信息

Inoue Shintaro, Takami Hirokazu, Tanaka Shota, Nomura Masashi, Takayanagi Shunsaku, Saito Yuki, Kikuta Shu, Kondo Kenji, Matsuura Reiko, Ikemura Masako, Yamazawa Sho, Matsutani Masao, Nishikawa Ryo, Matsushita Yuko, Ichimura Koichi, Saito Nobuhito

机构信息

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

Department Otolaryngology, Head and Neck Surgery, The University of Tokyo Hospital, Tokyo, Japan.

出版信息

Neuropathology. 2025 Apr;45(2):100-108. doi: 10.1111/neup.13008. Epub 2024 Oct 2.

Abstract

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.

摘要

生殖细胞肿瘤(GCTs)根据起源可分为性腺性或性腺外性。性腺外GCTs主要表现在中枢神经系统(CNS)、纵隔、腹膜后和骶尾部区域。这些恶性肿瘤最常发生于儿童、青少年和年轻成人人群。鼻腔内GCTs的发病率极为罕见,仅有6例病例记录。本报告详细介绍了一名70岁男性患者,其左侧鼻腔肿物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检测到SMARCA4(BRG1)缺失。此外,甲基化谱分析将该病例与CNS GCTs,特别是那些被归类为非生殖细胞瘤性GCTs的病例相匹配。这种分子特征为制定个性化治疗策略提供了依据,该策略包括使用卡铂和依托泊苷以及局部放疗。这种个体化治疗方案取得了良好的效果,患者三年多来一直无复发。这凸显了在性腺外GCTs治疗中采用精确治疗方法的必要性,特别是那些发生在非典型解剖部位的肿瘤。本病例强调了对罕见GCT表现进行全面诊断评估和定制治疗方案的重要性。有必要进行进一步的经验性和临床研究,以加深我们对此类特殊病例的理解并完善治疗方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2c9/11962582/2b3a449256c8/NEUP-45-100-g002.jpg

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