Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease.
Erdheim-chester disease
Histiocytosis
IgG4-related disease
Renal mass
Retroperitoneal fibrosis
Journal
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
ISSN: 1710-1484
Titre abrégé: Allergy Asthma Clin Immunol
Pays: England
ID NLM: 101244313
Informations de publication
Date de publication:
06 Jan 2021
06 Jan 2021
Historique:
received:
29
05
2020
accepted:
10
12
2020
entrez:
7
1
2021
pubmed:
8
1
2021
medline:
8
1
2021
Statut:
epublish
Résumé
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose. Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics. A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy.
Sections du résumé
BACKGROUND
BACKGROUND
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose.
CASES
METHODS
Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics.
CONCLUSION
CONCLUSIONS
A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy.
Identifiants
pubmed: 33407743
doi: 10.1186/s13223-020-00505-2
pii: 10.1186/s13223-020-00505-2
pmc: PMC7789688
doi:
Types de publication
Letter
Langues
eng
Pagination
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