Intraoperative rapid and sensitive detection of genetic alterations in lower-grade gliomas

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K16643
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurosurgery
• Research Institution: Nagoya University
• Principal Investigator: AOKI KOSUKE 名古屋大学, 医学系研究科, 特任助教 (10759773)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 低悪性度神経膠腫 / 遺伝子診断

Outline of Final Research Achievements

The classification of lower-grade glioma (LGG) are based on not only pathological diagnosis, but also genetic alterations: the presence or absence of IDH mutation and 1p/19q co-deletion. Since the ATRX mutation is mutually exclusive with the 1p/19q co-deletion, it has been suggested that it could serve as a surrogate marker for genotyping of LGG. In this study, we performed immunostaining against ATRX on 78 cases of LGG with a known genetic background. Then the genetic classification was misjudged in 14% of tumors if ATRX mutation was used as a surrogate marker. We reported that ATRX mutation alone was not suitable for genotyping of LGG (Yamamichi et al, Brain Tumor Pathology, 2018). In the future, more accurate and simple genetic diagnostic methods are desired.

Free Research Field

脳腫瘍

Academic Significance and Societal Importance of the Research Achievements

LGGは、その遺伝学的分類により生命予後が大きく異なる。また現在、遺伝学的分類毎の治療法も提唱されており、正確な診断は、患者の正確な予後予測と治療法選択にますます重要性を増してくると思われる。今回、比較的簡便に計測可能なATRXの免疫染色法による分類では、LGGの14%で誤った診断を下してしまうことを明らかにしている。本研究成果は、LGGの正確な遺伝子分類法を考える上で、大きな役割を果たす結果が得られたと考えられる。