一名患有复发性脊柱非典型畸胎横纹肌瘤的成年人。

Q1 Medicine
CNS Oncology Pub Date : 2024-01-01 Epub Date: 2024-02-21 DOI:10.2217/cns-2023-0017
Antoinette J Charles, Vanessa L Smith, C Rory Goodwin, Margaret O Johnson
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引用次数: 0

摘要

非典型畸形横纹肌瘤(AT/RT)是一种罕见的高度恶性中枢神经系统肿瘤,主要影响儿童。成人病例极为罕见,仅有约 92 例报道。成人脊髓横纹肌瘤尤其罕见。在此,我们介绍一例被诊断为脊柱 AT/RT 的 50 岁患者。最初,他们被诊断为脊柱上皮瘤并接受了治疗。然而,10 年后,通过磁共振成像(MRI)发现肿瘤复发,肿瘤被重新归类为 AT/RT。我们讨论了 SMARCB1 基因突变在诊断 AT/RT 中的意义,并介绍了我们对该患者采取的包括手术、放疗和抗 PD1 治疗在内的独特治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

An adult with recurrent atypical teratoid rhabdoid tumor of the spine.

An adult with recurrent atypical teratoid rhabdoid tumor of the spine.

An adult with recurrent atypical teratoid rhabdoid tumor of the spine.

Atypical teratoid rhabdoid tumors (AT/RT) are rare and highly malignant CNS neoplasms primarily affecting children. Adult cases are extremely uncommon, with only approximately 92 reported. Spinal AT/RT in adults is particularly rare. Here, we present the case of a 50-year-old patient diagnosed with AT/RT of the spine. Initially, they were diagnosed and treated for a spinal ependymoma. However, after 10 years, a recurrence was detected through magnetic resonance imaging (MRI) and the tumor was reclassified as AT/RT. We discuss the significance of SMARCB1 gene mutations in diagnosing AT/RT and describe our unique treatment approach involving surgery, radiation and anti-PD1 therapy in this patient.

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来源期刊
CNS Oncology
CNS Oncology Medicine-Neurology (clinical)
CiteScore
3.80
自引率
0.00%
发文量
12
审稿时长
13 weeks
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