Objective: To evaluate the clinicopathologic features of Rosai-Dorfman disease (RDD) , and elucidate the potential pathogenesis by whole exome sequencing (WES) . Methods: Clinico-pathological data of 23 RDD patients diagnosed between 2010 and 2018 in Changhai hospital were reviewed, and 9 paraffin-embedded specimens were performed for WES. Results: The median age of 23 RDD patients was 47 (10-79) years. Of them, 19 cases had extranodal lesions, 3 had nodal lesions, and 1 had nodal and extranodal lesions coincidently. All patients received surgery for lesion resection. Histiocytosis in lymph node sinuses or in extranodal tissues accompanied by lymphocyte phagocytosis are typical pathological features of RDD. Immunohistochemical staining shows histocytes are positive for S100, CD68 and CDl63, and negative for CD1a. mTOR, KMT2D and NOTCH1 mutations were detected with WES in these cases. Conclusion: Mutations in mTOR, KMT2D and NOTCH1 genes may be involved in the pathogenesis of RDD, and their clinical significance needs to be further studied.
目的： 分析Rosai-Dorfman disease（RDD）的临床病理特征，利用全基因组外显子测序探讨RDD的发病机制。 方法： 回顾性分析第二军医大学附属长海医院、长征医院2010年1月至2018年7月收治的23例RDD患者临床病理资料，并对9例患者石蜡包埋组织标本进行了全基因组外显子测序。 结果： 23例RDD患者中位年龄47（10~79）岁，19例为结外型，3例为淋巴结型，1例为混合型。所有患者均接受了手术切除病灶，19例患者中位随访24（1~67）个月，均无复发。病理形态主要表现为淋巴结窦内或结外组织中组织细胞增生伴有噬淋巴细胞现象，免疫组化示组织细胞表达S100、CD68、CD163，不表达CD1a。全基因组外显子测序发现mTOR、KMT2D和NOTCH1基因突变。 结论： mTOR、KMT2D和NOTCH1基因突变可能参与了RDD的发病机制，其临床意义仍需要进一步研究。.
Keywords: Immunohistochemistry; Sinus histiocytosis; Whole exome sequencing.