Cas clinique. Maladie d’Erdheim-Chester.

Biopsy; Erdheim-Chester Disease/diagnosis/genetics/therapy; Female; Humans; Middle Aged; Mutation; Proto-Oncogene Proteins B-raf/genetics; BRAF V600E; Histiocytosis; MAPK; Chester disease; Erdheim

Abstract :

[en] We report the case of a 47-year-old woman with unexplained inflammatory syndrome and asthenia. Imaging findings show bilateral abnormalities of femurs and tibias, suggesting an Erdheim-Chester disease, which is confirmed by a bone marrow biopsy of the left femur. The BRAF V600E mutation is detected, allowing the administration of targeted therapies such as BRAF and MEK inhibitors that lead to the improvement of symptoms.

Disciplines :

Genetics & genetic processes

Author, co-author :

DELPORTE, Géraldine ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Service d'anatomie et cytologie pathologiques

Delcorde, I.

RORIVE, Andrée ; Centre Hospitalier Universitaire de Liège - CHU > Département de médecine interne > Service d'oncologie médicale

JEUGMANS, Anne-Marie ; Centre Hospitalier Universitaire de Liège - CHU > Département de médecine interne > Service de rhumatologie

MOONEN, Marie ; Centre Hospitalier Universitaire de Liège - CHU > Département de médecine interne > Cardiologie multidisciplinaire et prévention

KOOPMANSCH, Benjamin ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Unité de laboratoire - oncologie et hématologie

Moonen, Gustave ; Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques

Delvenne, Philippe ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques

Language :

French

Title :

Cas clinique. Maladie d’Erdheim-Chester.

Alternative titles :

[en] Erdheim-Chester disease : a case report

Publication date :

2020

Journal title :

Revue Médicale de Liège

ISSN :

0370-629X

eISSN :

2566-1566

Publisher :

Université de Liège. Revue Médicale de Liège, Liège, Belgium

Volume :

Issue :

Pages :

213-217

Available on ORBi :

since 12 November 2020

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Bibliography

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