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一名患有NRAS和TP53突变的青春期女孩的原发性颅内恶性黑色素瘤:病例报告及文献综述

Primary intracranial malignant melanoma in an adolescent girl with NRAS and TP53 mutations: case report and literature review.

作者信息

Liu Xinyu, Shi Hailiang, Wen Xiaolong, Zhang Kuo, Feng Ge, Wei Jie, Wang Hebo

机构信息

Graduate School of North China University of Science and Technology, Tangshan, Hebei, China.

Hebei General Hospital, Shijiazhuang, Hebei, China.

出版信息

Front Oncol. 2024 Nov 22;14:1465676. doi: 10.3389/fonc.2024.1465676. eCollection 2024.

Abstract

Primary intracranial malignant melanoma(PIMM) is often difficult to treat in patients without a history of skin melanoma or extensive melanin deposition. Due to the rarity of the disease, the current accepted treatment is surgical resection, but the prognosis is still poor. We report a case of PIMM in an adolescent girl with epilepsy as the only symptom and atypical imaging findings. PIMM was confirmed by further pathological and clinical examination. We summarize previous cases to discuss the clinical manifestations, imaging, pathological and genetic characteristics of the disease, aiming to improve the clinician's understanding of the disease. This case underscores the PIMM as a differential diagnosis and prompt surgical treatment for adolescents with epileptic seizures accompanied by intracranial space-occupying lesions, even in the absence of extensive skin blackening.

摘要

原发性颅内恶性黑色素瘤(PIMM)在没有皮肤黑色素瘤病史或广泛黑色素沉积的患者中通常难以治疗。由于该疾病罕见,目前公认的治疗方法是手术切除,但预后仍然很差。我们报告一例青少年女性PIMM病例,该患者以癫痫为唯一症状,影像学表现不典型。通过进一步的病理和临床检查确诊为PIMM。我们总结以往病例以讨论该疾病的临床表现、影像学、病理和遗传学特征,旨在提高临床医生对该疾病的认识。该病例强调,对于伴有颅内占位性病变的癫痫发作青少年,即使没有广泛的皮肤变黑,PIMM也应作为鉴别诊断并及时进行手术治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c7b/11621058/9b2bf1c92bac/fonc-14-1465676-g001.jpg

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