Histiocytic Sarcoma Arising From Pediatric Rosai Dorfman Disease: Two Novel Cases and Literature Review

Area of Science:

• Oncology
• Histiocytic Disorders

Background:

• Rosai-Dorfman Disease (RDD) is a rare histiocytic disorder.
• RDD involves abnormal histiocyte accumulation with emperipolesis.
• Clinical presentation and genetics of RDD show significant variability.

Purpose of the Study:

• To describe two rare cases of Rosai-Dorfman Disease with sarcomatous transformation.
• To investigate the role of MAP2K1 mutations in these transformed RDD cases.
• To review similar cases from existing literature.

Main Methods:

• Case report of two patients with RDD and sarcomatous transformation.
• Genetic analysis for MAP2K1 mutations.
• Literature review of similar RDD cases.

Main Results:

• Two rare cases of RDD with sarcomatous transformation were identified.
• Both cases harbored MAP2K1 mutations.
• Patients showed poor response to multiple therapeutic lines.

Conclusions:

• Sarcomatous transformation in RDD is a rare but significant event.
• MAP2K1 mutations may be associated with sarcomatous transformation in RDD.
• These cases indicate a poor prognosis and limited treatment options.