Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease.
Erdheim-Chester disease (ECD) is a rare histiocytic disorder, characterized by the xanthomatous infiltration of tissues by CD68-positive and CD1a-/CD100-negative foamy histiocytes. In childhood, ECD is exceptionally rare, and only a dozen cases have been published so far. The cooccurence of Langerhans cell histiocytosis (LCH) and ECD is even rarer. Here, we report a 2-year-old boy, the youngest patient in the literature so far, who was diagnosed with concomitant BRAF mutation-positive LCH and ECD. In his case, conventional LCH treatment proved to be ineffective, but he is the youngest patient who was successfully treated with the BRAF inhibitor vemurafenib.
Second Department of Pediatrics.
Zsófia
Z
Váradi
Second Department of Pediatrics.
Rita
R
Bánusz
First Department of Pathology and Experimental Cancer Research, Semmelweis University.
Judit
J
Csomor
Pediatric Hematology and Stem Cell Transplantation Unit, United St István and St László Hospital, Budapest, Hungary.
Krisztián
K
Kállay
Second Department of Pediatrics.
Edit
E
Varga
Second Department of Pediatrics.
Gabriella
G
Kertész
Second Department of Pediatrics.
Monika
M
Csóka
Erdheim–Chester disease; Langerhans cell histiocytosis; pediatric histiocytic disorders; treatment; vemurafenib