1. IDH-mutant astrocytoma with an evolutional progression to CDKN2A/B homozygous deletion and NTRK fusion during recurrence: A case report.
- Author
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Kirishima M, Akahane T, Higa N, Suzuki S, Ueno S, Yonezawa H, Uchida H, Hanaya R, Yoshimoto K, Shimajiri S, Kitazono I, and Tanimoto A
- Subjects
- Humans, Isocitrate Dehydrogenase genetics, Homozygote, Sequence Deletion, Mutation, Cyclin-Dependent Kinase Inhibitor p16 genetics, Brain Neoplasms pathology, Astrocytoma pathology
- Abstract
We reported a case of molecularly defined isocitrate dehydrogenase (IDH)-mutant astrocytoma that recurred twice with aggressive behavior and increased anaplastic morphology. Primary and recurrent tumors were analyzed using custom-made DNA-based cancer gene and RNA-based fusion panels for next-generation sequencing (NGS). NGS analyses revealed that recurrent astrocytoma, in addition to IDH1 and tumor protein 53 mutations detected in the primary lesion, harbored cyclin-dependent kinase inhibitor (CDKN) 2 A/B homozygous deletion and neurotrophic tropomyosin receptor kinase 2 (NTRK2) fusion genes that consisted of golgin A1- and cyclin-dependent kinase 5 regulatory subunit associated protein 2-NTRK2 fusions. Anaplasia and necrosis were observed in the recurrent tumors, but not in the primary lesion. Therefore, the integrative diagnosis was primary IDH-mutant astrocytoma grade 2 and recurrent IDH-mutant astrocytoma grade 4 with NTRK2 fusions. This is a worthwhile report describing a case of IDH-mutant astrocytoma that showed genomic evolution during tumor recurrence. Our report suggests that NTRK fusion and CDKN2A/B homozygous deletion promote high-grade transformation and indicate an unfavorable prognosis of IDH-mutant astrocytoma., Competing Interests: Conflict of Interest The authors declare that there are no conflicts of interest., (Copyright © 2022. Published by Elsevier GmbH.)
- Published
- 2022
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