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Case Reports
. 2021 Sep 13;21(1):352.
doi: 10.1186/s12883-021-02379-2.

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

Huawei Jin #  1 , Zhenhua Yu #  2 , Tian Tian  3 , Guoping Shen  4 , Weian Chen  5 , Miao Fan  6 , Qun He  7 , Fei Xu  7 , Dawei Liu  8
Affiliations
Free PMC article
Case Reports

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

Huawei Jin et al. BMC Neurol. .
Free PMC article

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.

Keywords: Central Nervous System; Clone origin; Mutation; Rosai–Dorfman disease.

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Conflict of interest statement

The authors declare that they have no competing financial and non-financial interests.

Figures

Fig. 1
Fig. 1
Radiological findings. A. Axial T1-weighted MRI before the first surgery demonstrates two extra-axial, homogeneous, well-defined, dural-based obviously uniform enhancement lesions, including a large lesion (93mm × 80mm × 38mm) in the left frontotemporal parietal region, and a small lesion (38mm × 35mm × 11mm) in the right frontal region. B. Axial T2-weighted MRI before the first surgery. C. Sagittal T1-weighted MRI before the first surgery. D. 3D reconstruction from images before the first surgery shows the large lesion is rich blood supply which is mainly supplied by the middle meningeal artery. E. Axial T1-weighted MRI shows the right frontal lobe lesion grows obviously (50 mm × 50mm × 25 mm) after 20 months. F. Axial T1-weighted MRI shows that there is no tumor recurred in 12 months after the second surgery
Fig. 2
Fig. 2
Histopathology of Rosai-Dorfman disease from the first operation. A. Large histiocytes with emperipolesis (HE, 40×). B. Histiocytes with emperipolesis, immunoreactive for CD68 (40×). C. Histiocytes with emperipolesis, immunoreactive for S-100 (40×). D. Histiocytes with emperipolesis, immunoreactive for CD1a (20×)
Fig. 3
Fig. 3
Histopathology of Rosai-Dorfman disease from the second operation. A. Histiocytes with emperipolesis (HE, 40×). B. Large histiocytes with emperipolesis, immunoreactive for S-100 (40×). C. Histiocytes with emperipolesis, immunoreactive for CD68 (40×). D. Histiocytes with low proliferation index, immunoreactive for Ki-67 (40×)
Fig. 4
Fig. 4
Evolution tree in two lesions of Rosai-Dorfman disease
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