PDF(Pubmed)
Abstract：
BACKGROUND: Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis.
METHODS: Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation.
CONCLUSIONS: No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.
METHODS: Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation.
CONCLUSIONS: No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.
摘要：
背景：Rosai-Dorfman病（RDD）是一种罕见的自限性组织细胞增生症，在儿童和年轻人中更为普遍。它通常表现为无痛性双侧巨大颈淋巴结病，但也可能扩展到淋巴结外部位。在2％的病例中发现胸内RDD。在影像学上区分纵隔RDD和胸腺瘤构成了挑战，强调诊断依赖于病理特征和免疫组织化学染色。
方法：患者，男性,33岁,接受了肺部CT检查，显示前上纵隔有扩大的圆形软组织阴影，与一年前相比。手术切除切除了整个肿块，胸腺,和部分心包,确认RDD的病理学。使用第二代测试技术的基因检测确定了KRAS基因点突变。
结论：目前尚无针对该疾病的既定治疗方案。然而,随着基因突变研究的进展,一种新的治疗途径正在出现:靶向治疗与手术干预相结合.
方法：患者，男性,33岁,接受了肺部CT检查，显示前上纵隔有扩大的圆形软组织阴影，与一年前相比。手术切除切除了整个肿块，胸腺,和部分心包,确认RDD的病理学。使用第二代测试技术的基因检测确定了KRAS基因点突变。
结论：目前尚无针对该疾病的既定治疗方案。然而,随着基因突变研究的进展,一种新的治疗途径正在出现:靶向治疗与手术干预相结合.
