Absence of R140Q mutation of isocitrate dehydrogenase 2 in gliomas and breast cancers

Raynaud,Stéfane; Carbuccia,Nadine; Colin,Carole; Adélaïde,José; Mozziconacci,Marie-Joelle; Metellus,Philippe; Chinot,Olivier; Birnbaum,Daniel; Chaffanet,Max; Figarella-Branger,Dominique

doi:10.3892/ol_00000156

September-October 2010 Volume 1 Issue 5

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September-October 2010 Volume 1 Issue 5

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Article

Absence of R140Q mutation of isocitrate dehydrogenase 2 in gliomas and breast cancers

Authors:
- Stéfane Raynaud
- Nadine Carbuccia
- Carole Colin
- José Adélaïde
- Marie-Joelle Mozziconacci
- Philippe Metellus
- Olivier Chinot
- Daniel Birnbaum
- Max Chaffanet
- Dominique Figarella-Branger
View Affiliations / Copyright

Affiliations: Centre de Recherche en Canc´rologie de Marseille, Laboratoire d' Oncologie Moléculaire, UMR891 Inserm, Institut Paoli-Calmettes, 13009 Marseille, France
Pages: 883-884
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Published online on: September 1, 2010

https://doi.org/10.3892/ol_00000156
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Abstract

Somatic mutations of isocitrate dehydrogenase (IDH)-1 and IDH2 proteins have been described in gliomas. The mutations target the R132 amino acid residue and the R172 residue in IDH1 and IDH2, respectively. The same mutations were observed in acute myeloid leukemias with normal karyotype, but a new mutation in IDH2 (R140Q substitution) was detected in malignant myeloid diseases and appears to be the most frequent IDH mutation in these pathologies. To the best of our knowledge, no study thus far has reported the presence of this R140Q mutation in IDH2 in tumors of the nervous system and breast cancers. We evaluated IDH1 and IDH2 exon 4 in 48 low-grade gliomas, 58 primary glioblastomas and 94 breast cancers to evaluate the frequency of mutation and investigated the R140Q substitution in IDH2. The results were compared to our recently obtained results in hematopoietic diseases. The frequency of IDH1 and IDH2 mutations in our panel of gliomas was similar to previously reported mutations. No IDH2 R140 mutation was observed. Compared to hematopoietic diseases, the IDH2 R172 mutation was also more rare and IDH1 mutations more prominent in tumors of the nervous system. No IDH1 or IDH2 mutation was detected in the 94 breast cancer samples. Thus, the IDH2 R140 mutation appears to be restricted to hematopoietic diseases.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Absence of R140Q mutation of isocitrate dehydrogenase 2 in gliomas and breast cancers

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