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BMC Neurology

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Open Access 01-12-2021 | Magnetic Resonance Imaging | Case report

Rosai-Dorfman disease in the central nervous system with two isolated lesions originated from a single clone: a case report

Authors: Huawei Jin, Zhenhua Yu, Tian Tian, Guoping Shen, Weian Chen, Miao Fan, Qun He, Fei Xu, Dawei Liu

Published in: BMC Neurology | Issue 1/2021

Abstract

Background

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.

Case presentation

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.

Conclusions

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.

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Title: Rosai-Dorfman disease in the central nervous system with two isolated lesions originated from a single clone: a case report
Authors: Huawei Jin
Zhenhua Yu
Tian Tian
Guoping Shen
Weian Chen
Miao Fan
Qun He
Fei Xu
Dawei Liu
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Magnetic Resonance Imaging
Magnetic Resonance Imaging
Published in: BMC Neurology / Issue 1/2021
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-021-02379-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Rosai-Dorfman disease in the central nervous system with two isolated lesions originated from a single clone: a case report

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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