IDH1 mutations in a Brazilian series of Glioblastoma

Uno, Miyuki; Oba-Shinjo, Sueli Mieko; Silva, Roseli da; Miura, Flávio Key; Clara, Carlos Afonso; Almeida, J. R. W.; Malheiros, Suzana Mária Fleury; Bianco, André de Macedo; Brandt, Reynaldo André; Ribas, Guilherme Carvalhal; Feres, Halim; Dzik, Carlos; Rosemberg, Sérgio; Stávale, João Norberto; Teixeira, Manoel Jacobsen; Marie, Suely Kazue Nagahashi

doi:10.1590/s1807-59322011000100028

Cited by 27 publications

(21 citation statements)

References 16 publications

(26 reference statements)

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“…In the current study, we found IDH1 mutations in 18.7% (6/32) of samples tested, while none of the cases demonstrated any mutation in IDH2. The frequency of IDH1 mutations in our cohort was similar to that from Netherlands (20%, 23/113) (Bleeker et al, 2009) and Germany (19%, 50/262) (Felsberg et al, 2010), higher than Brazil (11.8%, 19/161) (Uno et al, 2011), and lower than USA (45.3%, 34/75) (Horbinski et al, 2009), Japan (29%, 73/250) (Musaka et al, 2012) as well as India (46%, 46/100) (Jha et al, 2011). The difference in the frequency of IDH1 mutation may be attributed to sample size, variable sensitivity of the detection assays, or the racial differences can also be taken into consideration.…”

Section: Discussionsupporting

confidence: 81%

“…In this context, identification of mutations in the isocitrate dehydrogenase (IDH1/ IDH2) either in the R132 or R172 residues were recently highlighted, and has already become a molecular marker of significant diagnostic and prognostic relevance in the assessment of human gliomas (Parsons et al, 2008;Yan et al, 2009). Mutations of the IDH1 R132 are reported in 55-80% of grade II/III oligodendroglioma/astrocytomas, over 90% of secondary glioblastomas (GBMs), rarely in primary glioblastoma (Van den Bent et al, 2010), and are associated with favorable prognosis (Uno et al, 2011). In contrast IDH2 mutations are rare, but more common in oligodendroglial tumors, as compared to astrocy¬tomas (Raynaud et al, 2010 protective mechanism in glioma patients which could be the reason for better outcome in patients with mutant IDH than those with the wild-type IDH genes (Zhu et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Molecular Investigation of Isocitrate Dehydrogenase Gene (IDH) Mutations in Gliomas: First Report of IDH2 Mutations in Indian Patients

Das¹,

Tangri²,

Ahmad³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Recent genome wide sequencing has identified mutations in IDH1/IDH2 predominantly in grade II-III gliomas and secondary glioblastomas which are associated with favorable clinical outcome. These mutations have become molecular markers of significant diagnostic and prognostic relevance in the assessment of human gliomas. In the current study we evaluated IDH1 (R132) and IDH2 (R172) in 32 gliomas of various grades and tumor subtypes. Sequencing analysis revealed R132H mutations in 18.7% tumors, while none of the cases showed IDH2 (R172) mutations. The frequency of IDH1 mutations was higher in females (21.4%) than males (11.1%), and it was significantly higher in younger patients. Histological analyses demonstrated presence of necrosis and micro vascular proliferation in 69% and 75% respectively. Interestingly, IDH1 mutations were predominantly present in non-necrotic tumors as well as in cases showing microvascular proliferation. Of the six IDH1 positive cases, three were glioblastomas (IV), and one each were anaplastic oligoastrocytoma (III), anaplastic oligodendroglioma III (n=1) and diffuse astrocytoma. In conclusion, IDH1 mutations are quite frequent in Indian glioma patients while IDH2 mutations are not observed. Since IDH mutations are associated with good prognosis, their use in routine clinical practice will enable better risk stratification and management of glioma patients.

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Section: Discussionsupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Molecular Investigation of Isocitrate Dehydrogenase Gene (IDH) Mutations in Gliomas: First Report of IDH2 Mutations in Indian Patients

Das¹,

Tangri²,

Ahmad³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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“…[29] Immunohistochemistry and Immunofluorescence For immunohistochemical detection of CXCR7, tissue sections were processed and subjected to antigen retrieval. The slides were immersed in 10 mM citrate buffer, pH 6.0, and incubated at 122°C for 4 min using electric pressure cooker (BioCare Medical, Walnut Greek, USA).…”

Section: Quantitative Real Time Pcr (Qrt-pcr)mentioning

confidence: 99%

CXCR7 and CXCR4 Expressions in Infiltrative Astrocytomas and Their Interactions with HIF1α Expression and IDH1 Mutation

Bianco

Uno

Oba-Shinjo

et al. 2014

Pathol. Oncol. Res.

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The CXCR7, a new receptor for CXCL12 with higher affinity than CXCR4 has raised key issues on glioma cell migration. The aim of this study is to investigate the CXCR7 mRNA expression in diffuse astrocytomas tissues and to evaluate its interactions with CXCR4 and HIF1α expression and IDH1 mutation. CXCR7, CXCR4 and HIF1α mRNA expression were evaluated in 129 frozen samples of astrocytomas. IDH1 mutation status was analyzed with gene expressions, matched with clinicopathological parameters and overall survival time. Protein expression was analyzed by immunohistochemistry in different grades of astrocytoma and in glioma cell line (U87MG) by confocal microscopy. There was significant difference in the expression levels of the genes studied between astrocytomas and non-neoplasic (NN) controls (p < 0.001). AGII showed no significant correlation between CXCR7/HIF1α (p = 0.548); there was significant correlation between CXCR7/CXCR4 (p = 0.042) and CXCR7/IDH1 (p = 0.008). GBM showed significant correlations between CXCR7/CXCR4 (p = 0.002), CXCR7/IDH1 (p < 0.001) and CXCR7/HIF1α (p = 0.008). HIF1α overexpression was associated with higher expressions of CXCR7 (p = 0.01) and CXCR4 (p < 0.0001), while IDH1 mutation was associated with lower CXCR7 (p = 0.009) and CXCR4 (p = 0.0005) mRNA expressions. Protein expression increased with malignancy and in U87MG cell line was mainly localized in the cellular membrane. CXCR7 was overexpressed in astrocytoma and correlates with CXCR4 and IDH1 in AGII and CXCR4, IDH1 and HIF1α in GBM. Overexpression HIF1α was related with higher expressions of CXCR7 and CXCR4, otherwise IDH1 mutation related with lower expression of both genes. No association between CXCR7 and CXCR4 expression and survival data was related.

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“…The frequency of IDH1 mutation was 80.8% in AGII (21 out of 26), 61.1% in AGIII (11 out of 18) and 12.8% in GBM (11 out of 86) (Figure 1, red lozenges and Table 1), which was also described in our previous study of the frequency of IDH1 mutations in a series of GBM patients [23]. Our GBM cases were composed mainly by primary GBMs, which explains the low frequency of IDH1 mutation.…”

Section: Association Of Lox Bmp1 and Hif1a Mrna Expression Levels Asupporting

confidence: 85%

“…All samples were collected during DNA extraction and IDH1 mutational analyses DNA was extracted from frozen tumor samples using a QiaAmp DNA Micro kit (Qiagen). Polymerase chain reaction (PCR) followed by DNA sequencing was applied to detect mutations in IDH1, as previously described [23]. The sequences of primers (5'-3') synthesized by IDT for PCR amplification of exon 4 were as follows:…”

Section: Tissue Samplesmentioning

confidence: 99%

Expressão gênica da família das lisil oxidases e papel funcional de LOX em astrocitomas

Silva¹

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IDH1 mutations in a Brazilian series of Glioblastoma

Cited by 27 publications

References 16 publications

Molecular Investigation of Isocitrate Dehydrogenase Gene (IDH) Mutations in Gliomas: First Report of IDH2 Mutations in Indian Patients

Molecular Investigation of Isocitrate Dehydrogenase Gene (IDH) Mutations in Gliomas: First Report of IDH2 Mutations in Indian Patients

CXCR7 and CXCR4 Expressions in Infiltrative Astrocytomas and Their Interactions with HIF1α Expression and IDH1 Mutation

Expressão gênica da família das lisil oxidases e papel funcional de LOX em astrocitomas

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