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Abstract Details

Diffuse Midline and Histone-Mutated Gliomas in Adults: Clinical, Molecular and Radiographic Features
Neuro-oncology
S14 - Translational and Clinical Advances in Neuro-oncology (2:06 PM-2:17 PM)
007

Diffuse midline glioma (DMG) H3 K27M-mutant is a rare, grade IV glial neoplasm recently added to 2016 World Health Organization (WHO) classification. DMGs are mainly seen in pediatric patients with 80% of diffuse intrinsic pontine gliomas (DIPG) having H3F3A p.Lys28Met mutations, but are very rare in adults.

 

To describe clinical, molecular and MRI features of adult, histone-mutated gliomas at our institution.

430 patients enrolled in our natural history study were reviewed, and cases with histone-mutations were analyzed for this study.

 

We found nine histone-mutated gliomas. Average age was 46 years, six patients were males. Tumors were localized in the brainstem in five patients, one thalamus, one cervical cord, and two hemispheric non-midline tumors. None of the tumors had a DIPG-like MRI appearance. The two hemispheric tumors were cystic and ring enhancing. Three tumors were relatively circumscribed and the other tumors had an infiltrative MRI appearance. Five of nine tumors had contrast enhancement at diagnosis. By histologic features alone, two cases were WHO Grade II, four were Grade III, and three Grade IV glial neoplasms. All nine cases had mutational profiling performed. All tumors were isocitrate dehydrogenase (IDH1/2) wild-type. Eight patients had H3F3A p.Lys28Met mutation, one hemispheric tumor had an H3F3A p.Gly35Val mutation. Co-occurring mutations included ATRX (n=4), TP53 (n=3), FGFR1 (n=2), and single cases with mutations in PPM1D and KRAS. The integrated pathologic evaluation changed the initial diagnosis in three cases.

 

In our series, most adult histone-mutated gliomas are midline and may have a unique circumscribed appearance by imaging. However, histone mutations, predominantly H3F3A p.Gly35Val, can occur in IDH wildtype hemispheric high-grade gliomas (HGGs), as previously reported in pediatric hemispheric HGGs, underscoring the importance of testing non-midline tumors for histone mutations and highlighting the need for additional studies of the clinical, radiographic, and molecular features of these rare cancers.

 

Authors/Disclosures
Orwa Aboud, MD, PhD (University of California Davis)
PRESENTER
Dr. Aboud has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Servier.
No disclosure on file
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Christine Cordova No disclosure on file
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Jing Wu, MD (National Cancer Institute, National Institutes of Health, Neuro-Oncology Branch) No disclosure on file
No disclosure on file
Mark Gilbert, MD (Center for Cancer Research National Cancer Institute) No disclosure on file
Brett J. Theeler, MD, FAAN (Uniformed Services University of the Health Sciences) Dr. Theeler has nothing to disclose.