黑色素细胞瘤
病理
医学
免疫组织化学
桥小脑角
磁共振成像
黑色素瘤
放射科
癌症研究
作者
Nitin Marwaha,Jacqueline R. Batanian,Jeroen Coppens,M Pierson,Jennifer Richards‐Yutz,Jessica Ebrahimzadeh,Arupa Ganguly,Miguel Guzmán
摘要
Melanocytoma are the melanocytic tumors originating from leptomeningeal melanocytes. Melanocytomas are commonly seen in the central nervous system (CNS) and are often associated with neurocutaneous melanosis (NCM). However, simultaneous presentation of intra-axial and extracranial melanocytoma is a very rare event. Here, we report a unique case of 21-year-old male with intermediate-grade subcutaneous (SC) melanocytoma, mimicking lipoma, occurred synchronously with an intracranial melanocytoma, not associated with NCM. A 21-year-old Caucasian male presented to the emergency department (ED) with severe vertigo and vomiting. A magnetic resonance imaging (MRI) of the brain was performed at the ED, which revealed an SC mass in the right occipital scalp and a right cerebellopontine angle (CPA) mass. Excision of the SC mass revealed a well-circumscribed highly pigmented melanocytic tumor. The SC mass tumor cells were positive for melanocytic lineage markers. The histopathological features were between benign melanocytomas and malignant melanomas. The Ki67 and PHH3 IHCs confirm the intermediate grade of the tumors. An array-CGH (comparative genome hybridization) and next-generation sequencing analysis of the tumor DNA extracted from the formalin-fixed paraffin-embedded tissue reveals chromosome 6p gain and p.Q209P mutation in the GNAQ gene, respectively, consistent with the diagnosis of intermediate-grade melanocytoma.
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