Erdheim–Chester Disease Mimicking Wilms Tumor in a Child: A Diagnostic Challenge

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Erdheim–Chester disease (ECD) is a rare non-Langerhans cell histiocytosis driven by activating mutations of the MAPK signaling pathway, most commonly <italic>BRAF</italic> V600E. Pediatric cases are exceedingly rare and often present with atypical, multisystem manifestations, resulting in significant diagnostic delay. Renal and retroperitoneal involvement ma...

Topics

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• Child, Preschool
• Diagnosis, Differential
• Erdheim-Chester Disease
• High-Throughput Nucleotide Sequencing
• Kidney Neoplasms
• Mutation
• Proto-Oncogene Proteins B-raf
• Wilms Tumor

Identifiers and source

Literature Corpus work

482438d7-7b55-5899-96e9-825ec1ccd7c4

DOI

10.21203/rs.3.rs-8562480/v1