Dataset Information

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.

SUBMITTER: Nasany RA

PROVIDER: S-EPMC8889645 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Nasany Ruham Alshiekh RA Reiner Anne S AS Francis Jasmine H JH Abla Oussama O Panageas Katherine S KS Diamond Eli L EL

Orphanet journal of rare diseases 20220302 1

<h4>Background</h4>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.<h4>Methods</h4>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 response ...[more]

PMID: 35236371

Similar Datasets

Project description:BackgroundRosai-Dorfman-Destombes disease (RDD) is a rare histioproliferative disease with unknown etiology. It commonly occurs in lymph nodes and can affect extra-nodal tissues and organs. Renal RDD is extremely rare, only a few cases have been reported, and its clinical symptoms and imaging findings are non-specific. To date, no literature has summarized its imaging manifestations in a large number of cases. Due to the involvement of different tissues and organs, there is no standard treatment for RDD. It has been reported that RDD patients with kidney involvement have a poor prognosis. Thus, understanding of renal RDD need to be extended.Case descriptionWe present a rare case of renal RDD in an asymptomatic 67-year-old male. The results of an ultrasound examination indicated that both kidneys were surrounded by hypoechoic soft tissue lesions, and there was a huge mass in the left kidney, which had a clear boundary with the renal capsule. The results of contrast-enhanced ultrasound (CEUS) showed hypo-enhancement in the bilateral perinephric lesions and mass. However, the computed tomography urography (CTU) findings revealed no obvious enhancement. The patient then underwent a series of laboratory tests, but no relevant information was found. To make a clear diagnosis, the urologist then removed the left perirenal mass and some perirenal tissues, and the patient was finally pathologically diagnosed with extra-nodal RDD. The patient remains asymptomatic, and no treatment has been administered to date.ConclusionsThis case may be the first reported case in which CEUS was performed and the second reported case of asymptomatic renal RDD. Based on the previous literature reports, we found that some specific characteristics of renal RDD include bilateral perirenal lesions with a "hairy kidney" appearance. CEUS and/or CTU can be used to help differentiate a solitary mass of RDD from common tumors, to avoid misdiagnosis leading to unnecessary nephrectomy.

Dataset Information

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

Background

Methods

Results

Conclusions

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets