Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review.
J Cardiothorac Surg
; 19(1): 166, 2024 Apr 01.
Article
in En
| MEDLINE
| ID: mdl-38561747
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Histiocytosis, Sinus
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
J Cardiothorac Surg
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: