Study of mutations in IDH1 and IDH2 genes in a sample of gliomas from Colombian population
Abstract
Introduction: Gliomas are the most common primary tumors of the central nervous system and, according to their malignancy, they are graded from I to IV. Recent studies have found that there is an association between gliomas and mutations in exon 4 of genes that codify for isocitrate dehydrogenases 1 and 2 (IDH1: codon 132; IDH2: codon 172).
Objective: To establish the frequency of mutations in IDH1 and IDH2 in a sample of gliomas from Colombian population.
Materials and methods: DNA was extracted from tumor tissue. The exon 4 of IDH1 and IDH2 was amplified by PCR using specific primers and subsequently sequenced. Mutations were determined using the 4Peaks MAFFT programs.
Results: We found mutations in the IDH1 gene in 34% of the glioma samples, with a predominance of the nonsynonymous mutation R132H. Mutations in the IDH2 gene were found in 7.5% of cases, with a predominance of the nonsynonymous R172K and R172W mutations.
Conclusions: The frequency of mutations in the IDH1 and IDH2 genes in the sample was similar to that reported in other studies. The analysis of these mutations may be important to establish prognostic factors and for the development of future therapeutic targets in gliomas.
Downloads
References
Chater CC, Aristizábal G, Aristizábal J, Roa CL, Alvarado H. Características demográficas y patológicas de los tumores del sistema nervioso central estudiados en la clínica El Bosque. Acta Neurol Colomb. 2011;27:106-13.
Weiler M, Wick W. Molecular predictors of outcome in lowgrade glioma.Curr Opin Neurol. 2012;25:767-73. https://doi.org/10.1097/WCO.0b013e32835a0217
Ortega-Aznar A, Jiménez-León P, Martínez H, Romero-Vidal F. Aspectos clinicopatológicos y moleculares de valor diagnóstico y pronóstico en gliomas.Rev Neurol. 2013;56:161-70.
Thomas L, Di Stefano AL, Ducray F. Predictive biomarkers in adult gliomas: The present and the future. Curr Opin Oncol. 2013;25:689-94. https://doi.org/10.1097/CCO.0000000000000002
Rousseau A, Mokhtari K, Duyckaerts C. The 2007 WHO classification of tumors of the central nervous system - what has changed? Curr Opin Neurol. 2008;21:720-7. https://doi.org/10.1097/WCO.0b013e328312c3a7
Ohgaki H, Kleihues P. The definition of primary and secondary glioblastoma. Clin Cancer Res. 2013;19:764-72. https://doi.org/10.1158/1078-0432.CCR-12-3002
Prensner JR, Chinnaiyan AM. Metabolism unhinged: IDH mutations in cancer. Nat Med. 2011;17:291-3. https://doi.org/10.1038/nm0311-291
Borodovsky A, Seltzer MJ, Riggins GJ. Altered cancer cell metabolism in gliomas with mutant IDH1 or IDH2. Curr Opin Oncol. 2012;24:83-9. https://doi.org/10.1097/CCO.0b013e32834d816a
Cairns RA, Mak TW. Oncogenic isocitrate dehydrogenase mutations: Mechanisms, models, and clinical opportunities. Cancer Discov. 2013;3:730-41. https://doi.org/10.1158/2159-8290.CD-13-0083
Labussiere M, Sanson M, Idbaih A, Delattre JY. IDH1 gene mutations: A new paradigm in glioma prognosis and therapy? Oncologist. 2010;5:196-9. https://doi.org/10.1634/theoncologist.2009-0218
Gagne L, Boulay K, Topisirovic I, Huot M-E, Mallette F. Oncogenic activities of IDH1/2 mutations; from epigenetics to cellular signaling. Trends Cell Biol. 2017. https://doi.org/10.1016/j.tcb.2017.06.002
Louis DN, Perry A, Guido R, von Deimling A, FigarellaBranger D, Cavenee WK, et al. The 2016 World Health Organization classification of tumors of the central nervous system: A summary. Acta Neuropathol. 2016;131:803-20. https://doi.org/10.1007/s00401-016-1545-1
Yan H, Parsons DW, Jin G, Mclendon R, Rasheed BA, Yuan W, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009;360:765-73. https://doi.org/10.1056/NEJMoa0808710
Kloosterhof NK, Bralten LB, Dubbink HJ, French PJ, van Den Bent MJ. Isocitrate dehydrogenase-1 mutations: A fundamentally new understanding of diffuse glioma? Lancet Oncol. 2011;12:83-91. https://doi.org/10.1016/S1470-2045(10)70053-X
Uno M, Oba-Shinjo SM, Silva R, Miura F, Clara CA, Almeida JR, et al. IDH1 mutations in a Brazilian series of glioblastoma. Clinics (Sao Paulo). 2011;66:163-5. https://doi.org/10.1590/S1807-59322011000100028
Cardona AF, Rojas L, Wills B, Behaine J, Jiménez E, Hakim F, et al. Genotyping low-grade gliomas among Hispanics. Neuro-Oncology Practice. 2016;3:164-172. https://doi.org/10.1093/nop/npv061
Schaap FG, French PJ, Bovee JV. Mutations in the isocitrate dehydrogenase genes IDH1 and IDH2 in tumors. Adv Anat Pathol. 2013;20:32-8. https://doi.org/10.1097/PAP.0b013e31827b654d
Dang L, Jin S, Su SM. IDH mutations in glioma and acute myeloid leukemia. Trends Mol Med. 2010;16:387-97. https://doi.org/10.1016/j.molmed.2010.07.002
Mellai M, Piazzi A, Caldera V, Monzeglio O, Cassoni P, Valente G, et al. IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors. J Neurooncol. 2011;105:345-57. https://doi.org/10.1007/s11060-011-0596-3
Preusser M, Bent M. Clinical Neuropathology Practice News 2-2013: Immunohistochemistry pins IDH in glioma–molecular testing procedures under scrutiny. Clin Neuropathol. 2013;32:82-3. https://doi.org/10.5414/NP300622
Some similar items:
- Andrés López-Rubio, Juan David Suaza, Charles Porter, Sandra Uribe, Gabriel Bedoya, Iván Darío Vélez, Phylogenetic signal at the Cytb-SertRNA-IG1-ND1 mitochondrial region in Anopheles (Kerteszia) neivai Howard, Dyar & Knab, 1913 , Biomedica: Vol. 37 No. Sup. 2 (2017): Suplemento 2, Entomología médica, 2017
- Andrea Casas-Vargas, Liza M. Romero, William Usaquén, Sara Zea, Margarita Silva, Ignacio Briceño, Alberto Gómez, José Vicente Rodríguez, Mitochondrial DNA diversity in prehispanic bone remains on the eastern Colombian Andes , Biomedica: Vol. 37 No. 4 (2017)
- Sandy Milena Caldera, María Cristina Jaramillo, Suljey Cochero, Alveiro Pérez-Doria, Eduar Elías Bejarano, Genetic differences between populations of Aedes aegypti from municipalities in northern Colombia, with high and low dengue incidence , Biomedica: Vol. 33 (2013): Suplemento 1, Fiebres hemorrágicas
- Jaime E. Bernal, Martha Lucía Tamayo , Ignacio Briceño , Escilda Benavides , Newborn screening in Colombia: The experience of a private program in Bogotá , Biomedica: Vol. 44 No. 1 (2024)
- Raúl Murillo, Ricardo Cendales, Carolina Wiesner, Marion Piñeros, Sandra Tovar, Effectiveness of cytology-based cervical cancer screening in the Colombian health system , Biomedica: Vol. 29 No. 3 (2009)
- Sandra Lorena Girón, Julio César Mateus, Fabián Méndez, Impact of an open waste disposal site on the occurrence of respiratory symptoms and on health care costs of children , Biomedica: Vol. 29 No. 3 (2009)
- José Joaquín Carvajal, Ligia Inés Moncada, Mauricio Humberto Rodríguez, Ligia del Pilar Pérez, Víctor Alberto Olano, Characterization of Aedes albopictus (Skuse, 1894) (Diptera:Culicidae) larval habitats near the Amazon River in Colombia , Biomedica: Vol. 29 No. 3 (2009)
- Andrés Páez, Gloria Rey, Carlos Agudelo, Alvaro Dulce, Edgar Parra, Hernando Díaz-Granados, Damaris Heredia, Luis Polo, Outbreak of urban rabies transmitted by dogs in Santa Marta, northern Colombia , Biomedica: Vol. 29 No. 3 (2009)
- Patricia Escobar, Katherine Paola Luna, Indira Paola Hernández, César Mauricio Rueda, María Magdalena Zorro, Simon L. Croft, In vitro susceptibility of Trypanosoma cruzi strains from Santander, Colombia, to hexadecylphosphocholine (miltefosine), nifurtimox and benznidazole , Biomedica: Vol. 29 No. 3 (2009)
- Mauricio Beltrán, María Cristina Navas, María Patricia Arbeláez, Jorge Donado, Sergio Jaramillo, Fernando De la Hoz, Cecilia Estrada, Lucía del Pilar Cortés, Amalia de Maldonado, Gloria Rey, Seroprevalence of hepatitis B virus and human immunodeficiency virus infection in a population of multiply-transfused patients in Colombia , Biomedica: Vol. 29 No. 2 (2009)
| Article metrics | |
|---|---|
| Abstract views | |
| Galley vies | |
| PDF Views | |
| HTML views | |
| Other views | |
