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Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type

  • Paediatric Neuroradiology
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Abstract

Purpose

BRAF V600E mutation is a distinctive genomic alteration of pediatric low-grade gliomas with prognostic and therapeutic implications. The aim of this retrospective multicenter study was to analyze imaging features of BRAF V600E-mutant and wild-type cerebral pilocytic astrocytomas (PAs) and gangliogliomas (GGs), focusing on the role of diffusion weighted imaging (DWI).

Methods

We retrospectively evaluated 56 pediatric patients with histologically proven, treatment-naïve PAs and GGs who underwent conventional MRI, DWI, and molecular analysis for BRAF V600E mutation. Twenty-three subjects presented BRAF V600E-mutant (12 PAs and 11 GGs) and 33 BRAF V600E wild-type (26 PAs and 7 GGs) tumors. Imaging studies were reviewed for dominant site, margin definition, hemorrhage, calcification, cystic components, contrast enhancement, and relative mean and minimum ADC values (rADCmean and rADCmin). Statistics included Fisher’s exact test, Student t test, general linear model, and receiver operating characteristic (ROC) analysis.

Results

PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. ROC analysis demonstrated similar performances between these parameters in predicting BRAF V600E status (rADCmean: AUC 0.831, p < 0.001; rADCmin: AUC 0.885, p < 0.001).

No significant differences regarding additional imaging features emerged between BRAF V600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAF V600E-mutant PAs (p = 0.011)

Conclusion

Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAF V600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors.

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Funding

No funding was received for this study.

Author information

Authors and Affiliations

  1. Fondazione Policlinico Universitario “A. Gemelli” IRCCS, UOC Radiodiagnostica e Neuroradiologia, Dipartimento di Diagnostica per Immagini, Radioterapia, Oncologia ed Ematologia, Roma, Italia

    Antonia Ramaglia & Massimo Benenati

  2. Università Cattolica del Sacro Cuore, Istituto di Radiologia, Roma, Italia

    Antonia Ramaglia & Massimo Benenati

  3. Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, via G. Gaslini 5, I-16147, Genova, Italy

    Domenico Tortora, Mariasavina Severino, Andrea Rossi & Giovanni Morana

  4. Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

    Kshitij Mankad, Felice D’Arco & Ulrike Löbel

  5. Department of Radiology, University Medical Center, Utrecht, The Netherlands

    Maarten Lequin

  6. Department of Pathology, University Medical Center, Utrecht, The Netherlands

    Wendy W. J. de Leng

  7. Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto Giannina Gaslini, Genova, Italy

    Patrizia De Marco

  8. Neuro-oncology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy

    Claudia Milanaccio

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  1. Antonia Ramaglia
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  2. Domenico Tortora
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  9. Wendy W. J. de Leng
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  11. Claudia Milanaccio
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  12. Andrea Rossi
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  13. Giovanni Morana
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Correspondence to Giovanni Morana.

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Ramaglia, A., Tortora, D., Mankad, K. et al. Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type. Neuroradiology 62, 71–80 (2020). https://doi.org/10.1007/s00234-019-02304-y

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