AUTHOR=Valero-Tena Esther , Roca-Espiau Mercedes , Verdú-Díaz Jose , Diaz-Manera Jordi , Andrade-Campos Marcio , Giraldo Pilar 

TITLE=Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease

JOURNAL=Frontiers in Medicine

VOLUME=Volume 10 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1098472

DOI=10.3389/fmed.2023.1098472

ISSN=2296-858X

ABSTRACT=Gaucher disease (GD) is a genetic lysosomal disorder characterized by high bone marrow (BM) involvement and skeletal complications, their pathophysiology is not fully elucidated. Magnetic resonance imaging (MRI) is the gold standard to evaluate BM. The aim of this study was to apply machine-learning techniques in a cohort of Spanish GD patients by a structured bone marrow MRI reporting model at diagnosis and follow-up to predict the evolution of bone disease. Four hundred and forty-one digitalizaded MRI studies from 131 patients (M: 69, F:62) were re-evaluated by a blinded expert radiologist. The studies were divided into those carried out at: A: baseline; B: between 1 and 4 y of follow-up; C: between 5 and 9 y and D: after 10 years of follow-up. Demographics, genetic, biomarkers, clinical data and cumulative years on therapy  were included in the model.  At baseline: man age 37.31 (1–80) y, median S-MRI (Spanish MRI score) 8.40 (males: 9.10 vs. females: 7.71) (p<0.001). BM clearance was faster and deeper in women during follow-up. Genotypes that do not include the c.1226A>G variant have a higher degree of infiltration and complications (p=0.017). A random forest machine-learning models identified that BM infiltration degree, age at start of therapy and femur infiltration were the most important factors to predict the risk of severe bone disease. Conclusion,: structured bone marrow MRI reporting is useful to standardize the collected data and facilitate clinical management and academics collaboration. Artificial intelligence methods applied to these studies can help to predict bone disease complications.