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Inicio Revista Española de Medicina Nuclear e Imagen Molecular (English Edition) The role of 2-[18F]FDG PET/CT in Erdheim-Chester disease
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Vol. 43. Issue 1.
Pages 14-22 (January - February 2024)
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Vol. 43. Issue 1.
Pages 14-22 (January - February 2024)
Original Article
The role of 2-[18F]FDG PET/CT in Erdheim-Chester disease
El papel de la PET/TC con 2-[18F]FDG en la enfermedad de Erdheim-Chester
M. Pudisa,
Corresponding author

Corresponding author.
, A. Palomar-Muñoza, X. Solanich-Morenob, J.J. Robles-Barbaa, G. Rocamora-Blanchb, L. Rodríguez-Bela, J.A. Narváezc, M. Cortés-Romeraa
a Servicio de Medicina Nuclear-PET(IDI), Hospital Universitari de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Barcelona, Spain
b Servicio de Medicina Interna, Hospital Universitari de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Barcelona, Spain
c Servicio de Radiodiagnóstico, Hospital Universitari de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Barcelona, Spain
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Figures (5)
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Tables (4)
Table 1. The World Health Organization classification of neoplasia of hematopoietic and lymphoid tissue. ECD is included within the neoplasias of histiocytes and dendritic cells and related diseases.
Table 2. Summary of the demographic characteristics, presence of a BRAF mutation, the clinical presentation and the time to diagnosis.
Table 3. Capacity of the imaging techniques to detect the involvement of the different organ systems. In parenthesis we indicate the number of patients (p) with infiltration detected by the different imaging techniques.
Table 4. Correlation of the BRAFV600E mutation with the organ systems affected (detected by PET or other techniques) and the SUVmax of the organ system with greatest avidity for the radiopharmaceutical, in parenthesis.
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To analyze the body distribution of Erdheim-Chester disease (ECD) and determine the utility of 2-[18 F]FDG PET/CT compared to other imaging techniques. Additionally, to assess the aggressiveness and extent of the disease based on the presence/absence of the BRAFV600E mutation.

Materials and methods

The 2-[18F]FDG-PET/CT scans of all patients diagnosed with ECD between 2008 and 2021 were reviewed, including 19 patients. The affected territories were classified as detectable by PET/CT or detectable only by other imaging techniques (bone scintigraphy, contrast-enhanced CT, or MRI). Descriptive analysis and correlation of the BRAF mutation with the affected organs and maximum SUV were performed using the Student's t-test.


Out of the 19 patients (14 males; mean age 60.3 years), 11 had the BRAFV600E mutation. A total of 127 territories (64 organ-systems) affected were identified using different imaging modalities, of which 112 were detected by PET/CT, and an additional 15 territories were solely identified by cerebral and cardiac MRI. The presence of BRAFV600E mutation was associated with greater organ involvement (p < 0.05) without differences in SUVmax (p > 0.05).


2-[18F]FDG PET/CT is a highly effective diagnostic tool in patients with ECD, detecting the majority of affected territories. MRI was the only imaging modality with additional findings in territories showing high physiological uptake of 2-[18F]FDG (cerebral and cardiac). The presence of the BRAFV600E mutation correlated with a higher extent of the disease.


Analizar la distribución corporal de la enfermedad Erdheim-Chester (ECD) y determinar la utilidad de la 2-[18F]FDG-PET/TC frente a otras técnicas de imagen. Asimismo, evaluar la agresividad y extensión de la enfermedad según la presencia/ausencia de mutación BRAFV600E.

Material y métodos

Se revisaron las 2-[18F]FDG-PET/TC de todos los pacientes diagnosticados con ECD entre 2008 y 2021, incluyendo 19 pacientes. Los territorios afectados se clasificaron como detectables por PET/TC o detectable solamente por otras técnicas de imagen (gammagrafía ósea, TC con contraste yodado o RM). Se realizó análisis descriptivo y correlación de la mutación BRAF con los órganos afectados y SUVmáx mediante la prueba t de Student.


De los 19 pacientes (14 hombres; edad media 60,3 años), 11 presentaban la mutación BRAFV600E. Se detectaron un total de 127 territorios (64 órgano-sistemas) afectados utilizando las diferentes modalidades de imagen, de los cuales 112 fueron detectados por la PET/TC y 15 territorios adicionales fueron identificados únicamente por la RM cerebral y cardiaca. La presencia de mutación BRAFV600E se asoció con mayor afectación orgánica (p < 0,05) sin diferencias en el SUVmáx (p > 0,05).


La 2-[18F]FDG-PET/TC es una prueba de alto rendimiento diagnóstico en pacientes con ECD detectando la mayoría de los territorios afectados. La RM fue la única prueba de imagen con hallazgos adicionales en territorios con alta captación fisiológica de 2-[18F]FDG (cerebral y cardíaca). La presencia de mutación del BRAFV600E se correlacionó con mayor extensión de la enfermedad.

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