The correlation analysis of TERT promoter mutations with IDH1/2 mutations and 1p/19q detected in human gliomas.

To investigate the correlations between mutations in the telomerase reverse transcriptase (TERT) promoter and isocitrate dehydrogenase (IDH) 1 and 2 mutations or 1p/19q deletion in human gliomas. TERT promoter gene and IDH gene mutations in 110 glioma specimens were evaluated using first generation Sanger sequencing. The 1p/19q status was determined with fluorescence in situ hybridization. The relationship between TERT promoter mutations and IDH gene mutations as well as 1p/19q deletion was analyzed using the χ2 test and Spearman rank correlation test. The TERT promoter mutation rate in 110 glioma specimens was 39.09% (43/110), with a rate of 32.56% (14/43) for C228T mutation and 67.44% (29/43) for C250T mutation. The IDH gene mutation rate in all specimens was 31.82% (35/110), with a rate of 52.78% (19/36) in low-grade gliomas and 21.62% (16/74) in high grade gliomas. The 1p/19q deletion rate was 28.18% (31/110) in all specimens. Correlation analysis revealed that TERT promoter mutation was positively correlated with 1p/19q deletion (relative precision (rp) = 0.244, P = .015). In lower-grade glioma with IDH mutation, TERT promoter mutation was positively correlated with 1p/19q deletion (rp = 0.856, P = .000). The prognosis for gliomas with IDH mutation/TERT mutation/1p/19qdeletion was good. Mutation of the TERT promoter was negatively correlated with IDH gene mutation (rp = -0.290, P = .004), except in 10 cases of oligodendroglioma and 1 case of anaplastic oligodendroglioma. There may be a complex inter-regulatory relationship between the mutations of the TERT promoter and IDH gene as well as 1p/19q abnormalities in human gliomas.

Xu J ，Xu FP ，Liu ZH ，Cui Q ，Zhang KP ，Li Z ... -  《-》

TERT promoter mutation confers favorable prognosis regardless of 1p/19q status in adult diffuse gliomas with IDH1/2 mutations.

Arita H ，Matsushita Y ，Machida R ，Yamasaki K ，Hata N ，Ohno M ，Yamaguchi S ，Sasayama T ，Tanaka S ，Higuchi F ，Iuchi T ，Saito K ，Kanamori M ，Matsuda KI ，Miyake Y ，Tamura K ，Tamai S ，Nakamura T ，Uda T ，Okita Y ，Fukai J ，Sakamoto D ，Hattori Y ，Pareira ES ，Hatae R ，Ishi Y ，Miyakita Y ，Tanaka K ，Takayanagi S ，Otani R ，Sakaida T ，Kobayashi K ，Saito R ，Kurozumi K ，Shofuda T ，Nonaka M ，Suzuki H ，Shibuya M ，Komori T ，Sasaki H ，Mizoguchi M ，Kishima H ，Nakada M ，Sonoda Y ，Tominaga T ，Nagane M ，Nishikawa R ，Kanemura Y ，Kuchiba A ，Narita Y ，Ichimura K ... -  《Acta Neuropathologica Communications》

Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.

Labreche K ，Kinnersley B ，Berzero G ，Di Stefano AL ，Rahimian A ，Detrait I ，Marie Y ，Grenier-Boley B ，Hoang-Xuan K ，Delattre JY ，Idbaih A ，Houlston RS ，Sanson M ... -  《-》

TERT promoter mutations contribute to subset prognostication of lower-grade gliomas.

Chan AK ，Yao Y ，Zhang Z ，Chung NY ，Liu JS ，Li KK ，Shi Z ，Chan DT ，Poon WS ，Zhou L ，Ng HK ... -  《-》

Impact of gross total resection in patients with WHO grade III glioma harboring the IDH 1/2 mutation without the 1p/19q co-deletion.

Kawaguchi T ，Sonoda Y ，Shibahara I ，Saito R ，Kanamori M ，Kumabe T ，Tominaga T ... -  《-》