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- W3201413757 abstract "Rosai-Dorfman disease (RDD) is a rare, benign, idiopathic non-Langerhans cell histiocytosis. Cases of RDD in the CNS are extremely rare but lethal. RDD is thought to represent a reactive process. Recent studies proposed a subset of RDD cases that had a clonal nature. However, its clone origin is poorly understood.We present a rare case of RDD in the CNS with two isolated lesions. These two lesions were removed successively after two operations. No seizure nor recurrence appears to date (2 years follow-up). Morphological and immunohistochemical profiles of these two lesions support the diagnosis of RDD. Based on the whole-exome sequencing (WES) data, we found the larger lesion has a higher tumor mutational burden (TMB) and more driver gene mutations than the smaller lesion. We also found seven common truncal mutations in these two lesions, raising the possibility that they might stem from the same ancestor clone.Overall, this is the first report about clonal evolution of RDD in the CNS with two isolated lesions. Our findings contribute to the pathology of RDD, and support the notion that a subset of cases with RDD is a clonal histiocytic disorder driven by genetic alterations." @default.
- W3201413757 created "2021-09-27" @default.
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- W3201413757 date "2021-09-13" @default.
- W3201413757 modified "2023-10-08" @default.
- W3201413757 title "Rosai-Dorfman disease in the central nervous system with two isolated lesions originated from a single clone: a case report" @default.
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- W3201413757 doi "https://doi.org/10.1186/s12883-021-02379-2" @default.
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