This study describes a rare case of mixed histiocytosis combining Erdheim–Chester disease and Langerhans cell histiocytosis with STEAP3-associated anemia and type 4 hemochromatosis. Using whole-exome sequencing, immunohistochemistry, and immunofluorescence analyses, the authors identified a mosaic BRAF V600E mutation together with pathogenic germline variants, highlighting the importance of integrated molecular diagnostics and targeted therapy in complex multisystem disorders.
Anastasiia A. Buianova, Tatiana A. Gaydina, Elena V. Reznik, Maksim D. Iarovoi, Anna A. Kuznetsova, Vera A. Belova, Mikhail A. Ignatyuk, Petr A. Shatalov, Zhanna A. Repinskaia, Anna P. Shinkarina, Artem V. Volodkin, Dmitrii A. Atiakshin & Dmitriy O. Korostin