骨骼Rosai-Dorfman病的诊疗进展

Progress in diagnosis and treatment of osseous Rosai-Dorfman disease

Rosai-Dorfman病,又称窦组织细胞增生伴巨大淋巴结病,是一种罕见的组织细胞病,通常表现为青少年的无痛性双侧颈部淋巴结肿大。Rosai-Dorfman病发病累及骨骼者不到10%,并且多达75%的骨骼Rosai-Dorfman病患者同时存在软组织病灶。颅骨、颌面骨和胫骨是骨骼Rosai-Dorfman病最常见的发病部位。该病临床表现缺乏特异性,诊断主要依靠常规病理学和免疫组织化学染色检查。临床表现主要是局部疼痛和肿胀。影像学上,通常表现为髓内的溶解性病变,有时伴有周围硬化。目前,Rosai-Dorfman病的病因尚不明确,可能涉及潜在的宿主免疫失调、IgG4相关疾病、多种自身免疫性疾病和基因突变等。目前伴有症状的骨骼Rosai-Dorfman病的治疗方案主要取决于具体病灶位置,主要包括手术刮除或切除,其他治疗方案包括激素治疗和化疗等。由于骨骼Rosai-Dorfman病的临床和影像学表现通常提示恶性病变可能,部分患者可能接受比较激进的治疗。全身PET/CT可以用于Rosai-Dorfman病的分期、随访和评估。

Sinus histiocytosis with massive lymphadenopathy, also known eponymously as Rosai-Dorfman disease, is a rare disease that is defined as a self-limiting proliferation of non-Langerhans histiocytes. The most common and typical presentation is painless bilateral cervical lymphadenopathy. Bone involvement in Rosai-Dorfman disease occurs in fewer than 10% of patients.In osseous Rosai-Dorfman disease, most patients suffer from a chronic course, and the cranial and facial bones as well as tibia are the most common sites. The clinical manifestations of the disease lack specificity, and the diagnosis is mainly based on routine pathological and immunohistochemical staining. Clinical presentation involves pain and swelling. On radiograph, typically, skeletal lesions are lytic and intramedullary, sometimes with surrounding sclerosis. The etiology of Rosai-Dorfman disease has been poorly understood so far. It has been hypothesized that Rosai-Dorfman disease may involve underlying host immune dysregulation, IgG4-related disease, various autoimmune disorders and gene mutation. Treatments primarily depend on specific locations of RosaiDorfman disease, including curettage or resection, steroids and chemotherapy. Since the clinical and radiologic manifestations of Rosai-Dorfman disease are often suggestive of malignancy, these patients might receive aggressive therapy. Whole-body PET/CT has proven to be a useful method for the management of Rosai-Dorfman disease, primarily for the staging, follow-up and evaluation of treatment results.