Case report: Targeted treatment strategies for Erdheim-Chester disease.

ABSTRACT:

Introduction

Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can present with a wide range of symptoms, making a differential diagnosis especially difficult. The primary and most important diagnostic tool is a biopsy of the affected organ/tissue. Nowadays the analysis of different mutations affecting the BRAF and MAPK pathways makes it possible to use targeted treatments, such as vemurafenib, dabrafenib, or cobimetinib.

Objective

Our aim is to present the results of three male patients treated in our hematology department.

Results

Our BRAF mutation-positive patient presented with retroperitoneal tissue proliferation and diabetes insipidus. The initial the

SUBMITTER: Gulyas A 

PROVIDER: S-EPMC10972997 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature