Clinical pathology observation of diffuse melanocytosis of the central nervous system
10.3969/j.issn.1004-1648.2025.02.016
- VernacularTitle:中枢神经系统弥漫性黑色素细胞增多症的临床病理学观察
- Author:
Jiang LI
1
;
Juan WANG
;
Kun SONG
Author Information
1. 210024 南京医科大学附属老年医院病理科
- Publication Type:Journal Article
- Keywords:
CNS;
diffuse;
melanocytosis;
clinical pathology
- From:
Journal of Clinical Neurology
2025;38(2):124-129
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinicopathological features of CNS diffuse melanocytosis and improve the understanding of the disease.Methods Two cases of diffuse melanocytosis diagnosed pathologically in Brain Hospital Affiliated to Nanjing Medical University were collected.Six cases reported in the domestic literature in the past 20 years were searched.The clinical features,imaging features,pathological examination and follow-up of those 8 patients were reviewed,and the clinicopathological features were analyzed according to the literature review.Results Among the 8 patients,there were 7 males and 1 female,aged from 3 years and 4 months old to 47 years old,including 2 children.Of the 8 patients,2 cases had neurocutaneous melanosis and 1 case had Dandy-Walker deformity.Radiographic findings were diffuse in 7 cases and arachnoid cyst in 1 case.Of the 8 patients,3 cases died,2 cases had no follow-up data,and the rest survived.Pathological examination of 8 patients were consistent with diffuse melanocytosis,of which 3 cases were CSF specimens and 5 cases were histological specimens.Cell and histopathology showed that the tumor cells were round,oval or polygon,no obvious atypia,no mitotic image or necrosis,and no evidence of brain parenchyma invasion.Immunohistochemical staining results showed that S100 and Melan-A were positively expressed in tumor cells of 5 cases.Vim and SOX10 were positively expressed in 2 cases.HMB45 expression was positive in 4 cases(including 1 case with weak expression intensity),and negative in 1 case.In addition,3 cases with BRAF V600E immunohistochemical results were negative for BRAF V600E.Conclusions CNS diffuse melanocytosis is very rare.The clinical features are lacking in specificity,and detailed clinical history,imaging,pathology,and necessary genetic testing are helpful in the diagnosis and differential diagnosis of the disease.Although the disease is benign,the prognosis is not good.
