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- Title
Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review.
- Authors
Zhang, Wenyu; Fang, Linan; Wang, Jing; Ma, Xiaobo; Hu, Xintong; Liu, Wei
- 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. Case presentation: 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.
- Subjects
NON-langerhans-cell histiocytosis; LITERATURE reviews; MEDIASTINUM diseases; RAS oncogenes; GENETIC testing; THYMOMA; ERDHEIM-Chester disease
- Publication
Journal of Cardiothoracic Surgery, 2024, Vol 19, Issue 1, p1
- ISSN
1749-8090
- Publication type
Article
- DOI
10.1186/s13019-024-02668-0