关键词: MECP2 Rett syndrome herpes simplex virus cytopathic effects malignant melanoma

Mesh : Adult Cytopathogenic Effect, Viral / genetics Disease Progression Female Humans Melanoma / diagnosis metabolism pathology surgery Methyl-CpG-Binding Protein 2 / genetics Mutation Rett Syndrome / complications genetics pathology Simplexvirus / metabolism Skin Neoplasms / diagnosis metabolism pathology surgery Melanoma, Cutaneous Malignant

来  源:   DOI:10.1111/cup.13943   PDF(Sci-hub)

Abstract:
Rett syndrome (RTT) is a progressive neurological disorder, affecting females with mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). While MECP2 has been implicated in cancers of the breast, colon, and prostrate, cancer in patients with RTT is rare. We present a case of malignant melanoma in a patient with RTT, which additionally, displayed hitherto undescribed nuclear features, resembling herpes simplex virus cytopathic effects.
摘要:
Rett综合征(RTT)是一种进行性神经系统疾病,影响X连锁基因甲基-CpG结合蛋白2(MECP2)突变的女性。虽然MECP2与乳腺癌有关,结肠,俯卧,RTT患者的癌症很少见。我们介绍了一例RTT患者的恶性黑色素瘤,此外,展示了迄今未描述的核特征,类似于单纯疱疹病毒的细胞病变效应。
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