Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case-control study.
Details
Serval ID
serval:BIB_392CB96E6104
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case-control study.
Journal
Scientific reports
Working group(s)
European Retinoblastoma Imaging Collaboration
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Publication state
Published
Issued date
23/10/2024
Peer-reviewed
Oui
Volume
14
Number
1
Pages
25103
Language
english
Notes
Publication types: Journal Article ; Multicenter Study
Publication Status: epublish
Publication Status: epublish
Abstract
MYCN-amplified RB1 wild-type (MYCN <sup>amp</sup> RB1 <sup>+/+</sup> ) retinoblastoma is a rare and aggressive subtype, often resistant to standard therapies. Identifying unique MRI features is crucial for diagnosing this subtype, as biopsy is not recommended. This study aimed to differentiate MYCN <sup>amp</sup> RB1 <sup>+/+</sup> from the most prevalent RB1 <sup>-/-</sup> retinoblastoma using pretreatment MRI and radiomics. Ninety-eight unilateral retinoblastoma patients (19 MYCN cases and 79 matched controls) were included. Tumors on T2-weighted MR images were manually delineated and validated by experienced radiologists. Radiomics analysis extracted 120 features per tumor. Several combinations of feature selection methods, oversampling techniques and machine learning (ML) classifiers were evaluated in a repeated fivefold cross-validation machine learning pipeline to yield the best-performing prediction model for MYCN. The best model used univariate feature selection, data oversampling (duplicating MYCN cases), and logistic regression classifier, achieving a mean AUC of 0.78 (SD 0.12). SHAP analysis highlighted lower sphericity, higher flatness, and greater gray-level heterogeneity as predictive for MYCN <sup>amp</sup> RB1 <sup>+/+</sup> status, yielding an AUC of 0.81 (SD 0.11). This study shows the potential of MRI-based radiomics to distinguish MYCN <sup>amp</sup> RB1 <sup>+/+</sup> and RB1 <sup>-/-</sup> retinoblastoma subtypes.
Keywords
Humans, Retinoblastoma/genetics, Retinoblastoma/diagnostic imaging, Retinoblastoma/pathology, N-Myc Proto-Oncogene Protein/genetics, Female, Magnetic Resonance Imaging/methods, Case-Control Studies, Male, Retrospective Studies, Retinoblastoma Binding Proteins/genetics, Ubiquitin-Protein Ligases/genetics, Child, Preschool, Infant, Retinal Neoplasms/genetics, Retinal Neoplasms/diagnostic imaging, Retinal Neoplasms/pathology, Machine Learning, Mutation, Diagnosis, Differential, Child, Radiomics, MYCN-amplification, MRI; radiomics, Retinoblastoma
Pubmed
Web of science
Open Access
Yes
Create date
27/10/2024 7:37
Last modification date
20/12/2024 7:07