Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature.

ABSTRACT:

Background

Erdheim-Chester disease (ECD) is a rare form of histiocytosis. An increasing number of genetic mutations have been associated with this syndrome, confirming its possible neoplastic origin. Recently, a connection between the BRAF mutational status and a specific phenotype was described; however, no studies have yet evaluated the correlations between other mutations and the clinical features of the disease.

Objectives

This study aims to clarify the association between the clinical phenotype and genetic mutations identified in the neoplastic cell lines of ECD.

Methods

We describe a case of ECD characterized by pericardial involvement and a KRAS mutation shared with chronic myelomonocytic leukemia. Hence, through a meta-analysis of individual participant data o

SUBMITTER: Bartoli L 

PROVIDER: S-EPMC9403274 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature