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青少年原发性颅内恶性黑色素瘤:病例报告及文献复习

Primary intracranial malignant melanoma in an adolescent: case report and literature review.

作者信息

Golden Nyoman, Kencana I Gusti Ketut Agung Surya, Lauren Christopher, Saputra Angky, Japardi Denny

机构信息

Neurosurgery Division, Department of Surgery, Faculty of Medicine, Udayana University, Prof. Dr. I.G.N.G. Ngoerah General Hospital, Denpasar, Bali, Indonesia.

出版信息

Front Surg. 2025 Feb 10;12:1524204. doi: 10.3389/fsurg.2025.1524204. eCollection 2025.

Abstract

Primary intracranial malignant melanoma (PIMM) is an exceedingly rare central nervous system tumor, accounting for only 1% of melanoma cases and 0.07% of primary CNS tumors, with limited documentation in adolescents. This case report describes an 18-year-old male who presented with a seizure, marking the onset of his symptoms. Following an emergency assessment, MRI identified a heterogeneous mass in the right parasagittal frontal region, initially misdiagnosed as a cystic meningioma. A craniotomy allowed for total tumor resection, and histopathological analysis revealed a malignant melanoma characterized by neoplastic cells with pronounced nuclear pleomorphism and significant mitotic activity. Postoperative evaluations, including a PET scan, confirmed no extracranial melanoma, affirming the diagnosis of primary CNS melanoma. The patient demonstrated no neurological deficits or seizures one year post-surgery and was managed with adjuvant radiotherapy. This report emphasizes the necessity of considering PIMM in differential diagnoses for seizures in young patients and highlights the importance of comprehensive diagnostic evaluations, including MRI and histopathology, in rare cases. Additionally, the findings underscore the critical role of complete surgical resection in improving outcomes, with adjuvant therapies potentially enhancing long-term management and surveillance. As PIMM presents with nonspecific symptoms, awareness among clinicians is essential for early detection and appropriate intervention, warranting further research to develop standardized treatment protocols and enhance understanding of this rare tumor's pathophysiology.

摘要

原发性颅内恶性黑色素瘤(PIMM)是一种极其罕见的中枢神经系统肿瘤,仅占黑色素瘤病例的1%和原发性中枢神经系统肿瘤的0.07%,在青少年中的文献记载有限。本病例报告描述了一名18岁男性,以癫痫发作为首发症状。经过紧急评估,磁共振成像(MRI)发现右侧矢状窦旁额叶区域有一个不均匀肿块,最初被误诊为囊性脑膜瘤。开颅手术实现了肿瘤全切,组织病理学分析显示为恶性黑色素瘤,其肿瘤细胞具有明显的核多形性和显著的有丝分裂活性。包括正电子发射断层扫描(PET)在内的术后评估证实无颅外黑色素瘤,从而确诊为原发性中枢神经系统黑色素瘤。患者术后一年无神经功能缺损或癫痫发作,并接受了辅助放疗。本报告强调了在年轻患者癫痫发作的鉴别诊断中考虑PIMM的必要性,并突出了包括MRI和组织病理学在内的综合诊断评估在罕见病例中的重要性。此外,研究结果强调了完整手术切除在改善预后中的关键作用,辅助治疗可能会加强长期管理和监测。由于PIMM表现为非特异性症状,临床医生提高认识对于早期发现和适当干预至关重要,有必要进一步开展研究以制定标准化治疗方案,并加深对这种罕见肿瘤病理生理学的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d67/11849180/7e31eba450fa/fsurg-12-1524204-g001.jpg

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