Department of Pathology, Division of Laboratory Medicine-Hematopathology, University of Alabama at Birmingham, Birmingham, AL, US.
Department of Laboratory Medicine and Pathology, Division of Hematopathology, Mayo Clinic, Rochester, MN, US.
Am J Clin Pathol. 2023 Jul 5;160(1):1-10. doi: 10.1093/ajcp/aqad047.
Rosai-Dorfman disease (RDD) is one of 3 major types of histiocytosis, along with Erdheim-Chester disease and Langerhans cell histiocytosis. While historically, RDD was considered a benign self-limited condition, current data show MAPK/ERK pathway mutations in 30% to 50% of cases, indicative of a clonal process. Rosai-Dorfman disease was incorporated as a histiocytic neoplasm in the fifth edition of the World Health Organization classification of hematopoietic tumors and the International Consensus Classification.
We discuss the diagnosis of RDD using 2 illustrative cases, interpretative challenges, and a diagnostic algorithm.
Rosai-Dorfman disease involves nodal and extranodal sites, including skin, sinuses, salivary gland, orbit, central nervous system, kidney, and bone. In a subset, RDD can coexist with other neoplasms (lymphomas, other histiocytosis) or autoimmune disease. Morphologically, RDD histiocytes are characterized by enlarged round to oval nuclei, distinct nucleoli, and voluminous cytoplasm with engulfment of inflammatory cells (emperipolesis). By immunohistochemistry, they express CD68, CD163 (majority), S100, OCT2, and cyclin D1. Appropriate use of ancillary studies is important to support the diagnosis of RDD while excluding other histiocytic neoplasms and reactive histiocytic proliferations.
Management of RDD is dependent on the extent of organ involvement and clinical symptoms. In patients who require therapy, next-generation sequencing is recommended to identify MAPK/ERK pathway mutations for targeted therapy.
罗道尔夫-多夫曼病（RDD）是组织细胞增生症的 3 种主要类型之一，其他两种为埃勒-当斯切斯特病和朗格汉斯细胞组织细胞增生症。虽然历史上 RDD 被认为是一种良性自限性疾病，但目前的数据显示，30%至 50%的病例存在 MAPK/ERK 通路突变，表明存在克隆性过程。RDD 已被纳入第五版世界卫生组织造血肿瘤分类和国际共识分类中的组织细胞肿瘤。
我们通过 2 个实例讨论了 RDD 的诊断，解释了其中的挑战，并提供了一个诊断算法。
RDD 累及淋巴结和结外部位，包括皮肤、鼻窦、唾液腺、眼眶、中枢神经系统、肾脏和骨骼。在一部分病例中，RDD 可以与其他肿瘤（淋巴瘤、其他组织细胞增生症）或自身免疫性疾病共存。在形态学上，RDD 组织细胞的特征是细胞核呈圆形或椭圆形增大，核仁明显，细胞质丰富，有吞噬炎症细胞的现象（吞噬现象）。免疫组织化学染色显示，它们表达 CD68、CD163（多数）、S100、OCT2 和 cyclin D1。适当使用辅助研究对于支持 RDD 的诊断，同时排除其他组织细胞肿瘤和反应性组织细胞增生是很重要的。
RDD 的治疗取决于器官受累的程度和临床症状。对于需要治疗的患者，建议进行下一代测序以识别 MAPK/ERK 通路突变，进行靶向治疗。
