Department of Neurology, Memorial Sloan Kettering Cancer Center, 160 East 53rd Street, 2nd Floor, New York, NY, 10022, USA.
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Orphanet J Rare Dis. 2022 Mar 2;17(1):92. doi: 10.1186/s13023-022-02220-0.
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.
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.
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%).
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.
罗赛-多夫曼-德斯东贝病（RDD）是一种罕见的组织细胞疾病，具有异质性的临床表现，且罕见累及神经系统。目前关于神经系统 RDD 的临床文献尚未经过严格审查。
我们对 4 个英文数据库进行了系统的文献检索，排除了二级文献，以查找 RDD 神经组织细胞病的病例。我们采集了神经系统症状、疾病部位、治疗和反应的个体患者数据。分析了一线和二线手术干预、手术后放疗和全身治疗的反应。
在文献检索中，共得到 4769 篇文章，对其中 154 篇进行了全面审查，共纳入 224 例患有神经系统 RDD 的患者。其中 128 篇（83.1%）为单一病例报告。149 例（66.5%）为男性，74 例（33.5%）为女性，中位年龄为 37.6 岁（范围 2-79 岁）。首发神经系统症状包括头痛（45.1%）、局灶性神经功能缺损（32.6%）、视觉症状（32.1%）和癫痫发作（24.6%）。32 例（14.3%）为多发病灶。200 例（89.6%）患者行一线切除术，其中 52 例（26%）出现进展，包括 41 例（78.8%）单发疾病患者。术后放疗与部分切除后不放疗相比，无进展生存期无差异。单独使用化疗作为一线治疗，7 例（43%）患者有完全或部分缓解。37 例（37.5%）患者接受二线治疗后有完全或部分缓解。10 例（4.46%）患者报告了突变数据。
本综述强调了神经系统 RDD 发表数据有限，临床表现和结局多样。需要进一步研究其突变情况，为复发性和难治性疾病寻找更有效的治疗方法。
