Abstract：
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.
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.
摘要：
目的：Rosai-Dorfman病（RDD）是组织细胞增生症的3种主要类型之一，还有Erdheim-Chester病和朗格汉斯细胞组织细胞增生症.从历史上看,RDD被认为是良性的自限疾病，目前的数据显示MAPK/ERK通路突变在30％至50％的病例中，表明克隆过程。Rosai-Dorfman病作为组织细胞肿瘤被纳入世界卫生组织第五版造血系统肿瘤分类和国际共识分类。
方法：我们使用2例说明性病例讨论RDD的诊断，解释性挑战，和诊断算法。
结果：Rosai-Dorfman病涉及淋巴结和结外部位，包括皮肤,鼻窦,唾液腺,轨道,中枢神经系统,肾,还有骨头.在一个子集中，RDD可以与其他肿瘤共存(淋巴瘤，其他组织细胞增生症）或自身免疫性疾病。形态学上,RDD组织细胞的特征是圆形到椭圆形的核扩大，不同的核仁，和大量的细胞质，吞噬炎症细胞（体周注射）。通过免疫组织化学，它们表达CD68，CD163（多数），S100、OCT2和细胞周期蛋白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殖非常重要。
结论：RDD的治疗取决于器官受累程度和临床症状。在需要治疗的患者中，建议使用下一代测序技术来鉴定MAPK/ERK通路突变,以用于靶向治疗.
方法：我们使用2例说明性病例讨论RDD的诊断，解释性挑战，和诊断算法。
结果：Rosai-Dorfman病涉及淋巴结和结外部位，包括皮肤,鼻窦,唾液腺,轨道,中枢神经系统,肾,还有骨头.在一个子集中，RDD可以与其他肿瘤共存(淋巴瘤，其他组织细胞增生症）或自身免疫性疾病。形态学上,RDD组织细胞的特征是圆形到椭圆形的核扩大，不同的核仁，和大量的细胞质，吞噬炎症细胞（体周注射）。通过免疫组织化学，它们表达CD68，CD163（多数），S100、OCT2和细胞周期蛋白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殖非常重要。
结论：RDD的治疗取决于器官受累程度和临床症状。在需要治疗的患者中，建议使用下一代测序技术来鉴定MAPK/ERK通路突变,以用于靶向治疗.
