IDH-Mutant Astrocytoma With Chromosome 19q13 Deletion Manifesting as an Oligodendroglioma-Like Morphology

Author:

Miyake Yohei1,Fujii Keita12,Nakamaura Taishi1,Ikegaya Naoki1,Matsushita Yuko13,Gobayashi Yuko,Iwashita Hiromichi4,Udaka Naoko4,Kumagai Jiro5,Murata Hidetoshi1,Takemoto Yasunori2,Yamanaka Shoji4,Ichimura Koichi3,Tateishi Kensuke1,Yamamoto Tetsuya1

Affiliation:

1. From the Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, Yokohama, Japan

2. Department of Neurosurgery, Yokohama City Minato Red Cross Hospital, Yokohama, Japan

3. Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan

4. Department of Pathology, Yokohama City University Hospital, Yokohama, Japan

5. Department of Pathology, Yokohama City Minato Red Cross Hospital, Yokohama, Japan

Abstract

Abstract Partial deletions in chromosomes 1p and 19q are found in a subset of astrocytic tumors; however, it remains unclear how these alterations affect their histological features and prognosis. Herein, we present 3 cases of isocitrate dehydrogenase (IDH)-mutant astrocytoma with chromosome 19q13 deletion. In the first case, the primary tumor harbored an IDH1 mutation with chromosome 1p/19q partial deletions, which covered 19q13 and exhibited a durable initial response to radiotherapy and temozolomide (TMZ) treatment. However, the tumor lost the chromosome 1p/19q partial deletions at recurrence and became resistant to TMZ. Histologically, an oligodendroglioma-like feature was found in the primary tumor but not in the recurrent tumor. Capicua transcriptional repressor (CIC), located on 19q13, was less expressed in the primary tumor but was highly expressed in the recurrent tumor. Similar histological findings were observed in 2 other astrocytic tumors with IDH1 or IDH2 mutations. These tumors also had chromosome 19q13 deletion, including the CIC gene, weakly expressed CIC, and oligodendroglioma-like morphology. These tumors recurred at 6 and 32 months, respectively. These findings suggest that IDH-mutant astrocytoma with chromosome 19q13 partial deletion, including the CIC gene, may induce an oligodendroglioma-like phenotype, but the clinical prognosis may not be similar to that of genetically defined oligodendroglioma.

Funder

Grant-in-Aid for Scientific Research

Princess Takamatsu Cancer Research Fund

Takeda Science Foundation

SGH Cancer Foundation

Bristol-Myers Squibb Foundation

Nishinomiya family Foundation

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Neurology,General Medicine,Pathology and Forensic Medicine

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