少突胶质瘤
星形细胞瘤
IDH1
异柠檬酸脱氢酶
生物
胶质瘤
癌症研究
染色体
替莫唑胺
少突胶质瘤
等色体
病理
突变
分子生物学
遗传学
核型
基因
医学
生物化学
酶
作者
Yohei Miyake,Keita Fujii,Taishi Nakamaura,Naoki Ikegaya,Yuko Matsushita,Yuko Gobayashi,Hiromichi Iwashita,Naoko Udaka,Jiro Kumagai,Hidetoshi Murata,Yasunori Takemoto,Shoji Yamanaka,Koichi Ichimura,Kensuke Tateishi,Tetsuya Yamamoto
摘要
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.
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