Rosai–Dorfman–Destombes disease of the nervous system: a systematic literature review

Abstract

Background Rosai–Dorfman–Destombes disease (RDD) is a rare histiocytic disorder with heterogeneous clinical manifestations and rare neurologic involvement. The existing clinical literature about neurologic RDD has yet to be critically examined. Methods We performed a four-database English-language systematic literature search for cases of RDD neurohistiocytosis, excluding secondary literature. Individual patient data for neurologic symptoms, disease sites, treatments, and responses were captured. Responses to first-line and second-line surgical interventions, post-surgical radiotherapy, and systemic therapies were analyzed. Results Among 4769 articles yielded by literature search, 154 articles were fully reviewed, containing data on 224 patients with neurologic RDD. 128 (83.1%) articles were single case reports. 149 (66.5%) patients were male, 74 (33.5%) female, with a median age of 37.6 years (range 2–79). Presenting neurologic symptoms included headache (45.1%), focal neurological deficits (32.6%), visual symptoms (32.1%), and seizures (24.6%). RDD involvement was multifocal in 32 (14.3%) cases. First-line treatment involved resection in 200 (89.6%) patients, with subsequent progression in 52 (26%), including 41 (78.8%) with unifocal disease. No difference was observed in progression-free survival comparing post-operative radiotherapy to no radiotherapy following partial resection. Chemotherapy given alone as first-line treatment led to complete or partial response in 3/7(43%) patients. Second-line treatments led to complete or partial response in 18/37(37.5%) patients. Mutational data were reported on 10 patients (4.46%). Conclusions This review highlights the limited published data about neurologic RDD, which presents with varied symptomatology and outcome. Further study is needed about its mutational landscape, and more effective therapies are needed for recurrent and refractory disease.

A case report of epileptic seizures caused by Rosai Dorfman disease followed by a literature review

“…Recent statistics show that: depending on the location of the tumor, clinical symptoms are headache (45.1%), focal neurologic dysfunction (32.6%), visual symptoms (32.1%), epilepsy (24.6%), cerebral neuropathy (11.6%), cerebellar dysfunction (11.2%), and cognitive decline (5.8%), and spinal lesions may follow with hemiplegia or paraplegia. [ 12 ] In this case, epileptic seizures are the main symptoms, and it is found that there are intracranial lesions through imaging examination.…”

Dramatic Efficacy of Interferon and Vemurafenib on Psychiatric Symptoms Revealing BRAFV600E-Mutated Erdheim–Chester Disease: A Case Report

“…It is mainly reported in Langerhans-cell histiocytosis ( 11 ), another histiocytosis with a frequent BRAF V600E mutation. It is rarely described in Rosai–Dorfman disease ( 12 ), another histiocytosis with rarer clonal involvement ( 13 ). These histiocytoses affect younger people, mostly young adults (even children) compared with ECD.…”

Intracranial Rosai-Dorfman Disease: pathophysiology, diagnosis and treatment

“…Cells express CD14, CD163, CD68 and fascin. They are CD1a-and CD207-and are strongly S100 positive [21,26,27] .…”

“…One of the most popular paradigms concerning histiocytoses origin is whether the process is neoplastic or reactive -in LCH (Langerhans cell histiocytosis) it is already known that the neoplastic process is involved in this disease pathogenesis due to certain genes' activation [12][13][14] . Even though the histological evaluation shows alterations in cellularity and accumulation of activated, large histiocytes with abundant eosinophilic cytoplasm and atypical nuclei accompanied by inflammatory background or fibrosis [15][16][17][18] , exact genes were tackled in RDD people, which demonstrates the neoplastic origin of this disease [19][20][21][22][23] . Recent research suggests that RDD onset is correlated with the excessed immune response of the haematolymphoid system to infection, which leads to transferring circulating monocytes into activated macrophages (not dendric cells) -future histiocytes [24] .…”

“…Up to 33% of patients express abnormalities in KRAS, NRAS, MAP2K1 and ARAF genes, which are correlated with the neoplastic origin [19][20][21][22][23]28]. Some cases go along with familial heredity, especially in families with a germline mutation in the SLC20A3 gene [29] .…”