Pathology Unit, Department of Pathology and Diagnostics, University and Hospital Trust of Verona, Verona, Italy.
Legal Medicine and Forensic Pathology Unit, Department of Pathology and Diagnostics, University and Hospital Trust of Verona, Verona, Italy.
Brain Tumor Pathol. 2018 Oct;35(4):217-223. doi: 10.1007/s10014-018-0328-x. Epub 2018 Aug 25.
Primary melanocytic tumors of central nervous system represent rare tumors arising from melanocytes of the leptomeninges. These neoplasms include focal forms like melanocytoma and primary malignant melanoma and diffuse forms like leptomeningeal melanocytosis and primary leptomeningeal melanomatosis. The clinical diagnosis remains challenging, with clinical and radiologic features overlapping with other more common diseases. Here we present a case of a 38 years old male with primary diffuse leptomeningeal melanomatosis with presence of a NRAS mutation without features of neurocutaneous melanosis.
中枢神经系统原发性黑色素细胞肿瘤是由软脑膜黑色素细胞起源的罕见肿瘤。这些肿瘤包括局灶性形式,如黑色素细胞瘤和原发性恶性黑色素瘤,以及弥漫性形式,如软脑膜黑色素细胞增多症和原发性软脑膜黑色素瘤病。临床诊断仍然具有挑战性,其临床表现和影像学特征与其他更常见的疾病重叠。在此,我们报告 1 例 38 岁男性,患有原发性弥漫性软脑膜黑色素瘤病,存在 NRAS 突变,但无神经皮肤黑色素瘤的特征。