%0 Review
%T Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review.
%A Zhang W
%A Fang L
%A Wang J
%A Ma X
%A Hu X
%A Liu W
%J J Cardiothorac Surg
%V 19
%N 1
%D 2024 Apr 1
%M 38561747
%F 1.522
%R 10.1186/s13019-024-02668-0
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.