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皮肤黑色素瘤与多形性胶质母细胞瘤的关联——病例报告与文献综述

Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review.

作者信息

Orzan Olguța Anca, Giurcăneanu Călin, Dima Bogdan, Dima Monica Beatrice, Ion Ana, Bălăceanu Beatrice, Nițipir Cornelia, Tudose Irina, Nicolae Cătălina Andreea, Dorobanțu Alexandra Maria

机构信息

Dermatology Department, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.

Dermatology Department, "Elias" University Emergency Hospital, 011461 Bucharest, Romania.

出版信息

Diagnostics (Basel). 2023 Mar 9;13(6):1046. doi: 10.3390/diagnostics13061046.

Abstract

The occurrence of both melanoma and glioma was first suggested by the observation of a familial association between these conditions, which was later confirmed by the description of the melanoma-astrocytoma syndrome, an extremely rare, inherited affliction in which people have an increased risk of developing melanoma and nervous system tumors. Taking into consideration the common embryologic precursor, the neuroectoderm, it was hypothesized that this syndrome is associated with a genetic disorder. While some families with germline mutations are prone to develop just melanomas, others develop both melanomas and astrocytomas or even other nervous-system neoplasms. Herein, we report the case of a 63-year-old male patient with no personal or family history of malignancy who had primary melanoma followed by glioblastoma. Our case report suggests that the occurrence of both melanoma and glioblastoma is most likely not coincidental but instead linked to genetic mutations of common embryologic precursors or signaling pathways.

摘要

黑色素瘤和神经胶质瘤的并发最初是通过观察这两种疾病之间的家族关联而提出的,后来黑色素瘤-星形细胞瘤综合征的描述证实了这一点,这是一种极其罕见的遗传性疾病,患者患黑色素瘤和神经系统肿瘤的风险增加。考虑到共同的胚胎学前体神经外胚层,推测这种综合征与一种遗传疾病有关。虽然一些有生殖系突变的家族倾向于只发生黑色素瘤,但其他家族则同时发生黑色素瘤和星形细胞瘤,甚至其他神经系统肿瘤。在此,我们报告一例63岁男性患者,他没有个人或家族恶性肿瘤病史,先患原发性黑色素瘤,后患胶质母细胞瘤。我们的病例报告表明,黑色素瘤和胶质母细胞瘤的并发很可能并非巧合,而是与共同胚胎学前体或信号通路的基因突变有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c9c/10047677/a0c080be33f0/diagnostics-13-01046-g001.jpg

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