Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
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Association of The IDH1 C.395G>A (R132H) Mutation with Histological Type in Malay Brain Tumors

  • Yusoff, Abdul Aziz Mohamed (Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus) ;
  • Zulfakhar, Fatin Najwa (School of Health Sciences, Universiti Sains Malaysia, Health Campus) ;
  • Sul'ain, Mohd Dasuki (School of Health Sciences, Universiti Sains Malaysia, Health Campus) ;
  • Idris, Zamzuri (Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus) ;
  • Abdullah, Jafri Malin (Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus)
  • Published : 2016.12.01
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Abstract

Background: Brain tumors, constituting one of the most deadly forms of cancer worldwide, result from the accumulation of multiple genetic and epigenetic alterations in genes and signaling pathways. Isocitrate dehydrogenase enzyme isoform 1 (IDH1) mutations are frequently identified in primary brain tumors and acute myeloid leukemia. Studies on IDH1 gene mutations have been extensively performed in various populations worldwide but not in Malaysia. This work was conducted to study the prevalence of IDH1 c.395G>A (R132H) hotspot mutations in a group of Malaysian patients with brain tumors in order to gain local data for the IDH1 mutation profile in our population. Methods: Mutation analysis of c.395G>A (R132H) of IDH1 was performed in 40 brain tumor specimens by the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) and then verified by direct sequencing. Associations between the IDH1 c.395G>A (R132H) mutation and clinicopathologic characteristics were also analyzed. Results: The IDH1 c.395G>A (R132H) mutation was detected in 14/40 patients (35%). A significant association was found with histological tumor types, but not with age, gender and race. Conclusions: IDH1 is frequently mutated and associated with histological subtypes in Malay brain tumors.

Keywords

Acknowledgement

Supported by : Universiti Sains Malaysia, Ministry of Higher Education of Malaysia

References

  1. Agarwal S, Sharma MC, Jha P, et al (2013). Comparative study of IDH1 mutations in gliomas by immunohistochemistry and DNA sequencing. Neuro Oncol, 15, 718-26. https://doi.org/10.1093/neuonc/not015
  2. Ahmadi R, Stockhammer F, Becker N, et al (2012). No prognostic value of IDH1 mutations in a series of 100 WHO grade II astrocytomas. J Neurooncol, 109, 15-22. https://doi.org/10.1007/s11060-012-0863-y
  3. Baldewpersad Tewarie NM, Burgers IA, Dawood Y, et al (2013). NADP+ -dependent IDH1 R132 mutation and its relevance for glioma patient survival. Med Hypotheses, 80, 728-31. https://doi.org/10.1016/j.mehy.2013.02.022
  4. Balss J, Meyer J, Mueller W, et al (2008). Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol, 116, 597-602. https://doi.org/10.1007/s00401-008-0455-2
  5. Bleeker FE, Lamba S, Leenstra S, et al (2009). IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. Hum Mutat, 30, 7-11. https://doi.org/10.1002/humu.20937
  6. Chen JR, Yao Y, Xu HZ, et al (2016). Isocitrate dehydrogenase (IDH)1/2 mutations as prognostic markers in patients with glioblastomas. Medicine (Baltimore), 95, e2583. https://doi.org/10.1097/MD.0000000000002583
  7. Das BR, Tangri R, Ahmad F, et al (2013). Molecular investigation of isocitrate dehydrogenase gene (IDH) mutations in gliomas: first report of IDH2 mutations in Indian patients. Asian Pac J Cancer Prev, 14, 7261-4. https://doi.org/10.7314/APJCP.2013.14.12.7261
  8. de Robles P, Fiest KM, Frolkis AD, et al (2015). The worldwide incidence and prevalence of primary brain tumors: a systematic review and meta-analysis. Neuro Oncol, 17, 776-83. https://doi.org/10.1093/neuonc/nou283
  9. Elsayed GM, Nassar HR, Zaher A, et al (2014). Prognostic value of IDH1 mutations identified with PCR-RFLP assay in acute myeloid leukemia patients. J Egypt Natl Canc Inst, 26, 43-9. https://doi.org/10.1016/j.jnci.2013.11.001
  10. Goh CH, Lu YY, Lau BL, et al (2014). Wong A. Brain and spinal tumour. Med J Malaysia, 69, 261-7.
  11. Guan L, Gao L, Wang L, et al (2013). The Frequency and clinical significance of IDH1 mutations in Chinese acute myeloid leukemia patients. PLoS One, 8, e83334. https://doi.org/10.1371/journal.pone.0083334
  12. Gupta R, Flanagan S, Li CC, et al (2013). Expanding the spectrum of IDH1 mutations in gliomas. Mod Pathol, 26, 619-25. https://doi.org/10.1038/modpathol.2012.210
  13. Ha SY, Kang SY, Do IG, et al (2013). Glioblastoma with oligodendroglial component represents a subgroup of glioblastoma with high prevalence of IDH1 mutation and association with younger age. J Neurooncol, 112, 439-48. https://doi.org/10.1007/s11060-013-1073-y
  14. Hartmann C, Meyer J, Balss J, et al (2009). Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas. Acta Neuropathol, 118, 469-74. https://doi.org/10.1007/s00401-009-0561-9
  15. Houillier C, Wang X, Kaloshi G, et al (2010). IDH1 or IDH2 mutations predict longer survival and response to temozolomide in low-grade gliomas. Neurology, 75, 1560-6. https://doi.org/10.1212/WNL.0b013e3181f96282
  16. Ichimura K, Pearson DM, Kocialkowski S, et al (2009). IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas. Neuro Oncol, 11, 341-7. https://doi.org/10.1215/15228517-2009-025
  17. Im AP, Sehgal AR, Carroll MP, et al (2014). DNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategies. Leukemia, 28, 1774-83. https://doi.org/10.1038/leu.2014.124
  18. Jha P, Suri V, Sharma V, et al (2011). IDH1 mutations in gliomas: first series from a tertiary care centre in India with comprehensive review of literature. Exp Mol Pathol, 91, 385-93. https://doi.org/10.1016/j.yexmp.2011.04.017
  19. Jin J, Hu C, Yu M, et al (2014). Prognostic value of isocitrate dehydrogenase mutations in myelodysplastic syndromes: a retrospective cohort study and meta-analysis. PLoS One, 9, e100206. https://doi.org/10.1371/journal.pone.0100206
  20. Kang MR, Kim MS, Oh JE, et al (2009). Mutational analysis of IDH1 codon 132 in glioblastomas and other common cancers. Int J Cancer, 125, 353-5. https://doi.org/10.1002/ijc.24379
  21. Li J, Zhang H, Wang L, et al (2015). Comparative study of IDH1 mutations in gliomas by high resolution melting analysis, immunohistochemistry and direct DNA sequencing. Mol Med Rep, 12, 4376-81. https://doi.org/10.3892/mmr.2015.3987
  22. Li MY, Wang YY, Cai JQ, et al (2015). Isocitrate dehydrogenase 1 gene mutation is associated with prognosis in clinical lowgrade gliomas. PLoS One, 10, e0130872. https://doi.org/10.1371/journal.pone.0130872
  23. Lim CC, Rampal S, Halimah Y (2008). Cancer incidence in Peninsular Malaysia, 2003-2005. Kuala Lumpur: National Cancer Registry; 2008.
  24. Lin J, Yao DM, Qian J, et al (2012). IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. Ann Hematol, 91, 519-25. https://doi.org/10.1007/s00277-011-1352-7
  25. Meyer J, Pusch S, Balss J, et al (2010). PCR- and restriction endonuclease-based detection of IDH1 mutations. Brain Pathol, 20, 298-300. https://doi.org/10.1111/j.1750-3639.2009.00327.x
  26. Molenaar RJ, Thota S, Nagata Y, et al (2015). Clinical and biological implications of ancestral and non-ancestral IDH1 and IDH2 mutations in myeloid neoplasms. Leukemia, 29, 2134-42. https://doi.org/10.1038/leu.2015.91
  27. Mondesir J, Willekens C, Touat M, et al (2016). IDH1 and IDH2 mutations as novel therapeutic targets: current perspectives. J Blood Med, 7, 171-80. https://doi.org/10.2147/JBM.S70716
  28. Mukasa A, Takayanagi S, Saito K, et al (2012). Significance of IDH mutations varies with tumor histology, grade, and genetics in Japanese glioma patients. Cancer Sci, 103, 587-92. https://doi.org/10.1111/j.1349-7006.2011.02175.x
  29. Myung JK, Cho HJ, Park CK, et al (2012). IDH1 mutation of gliomas with long-term survival analysis. Oncol Rep, 28, 1639-44. https://doi.org/10.3892/or.2012.1994
  30. Nobusawa S, Watanabe T, Kleihues P, et al (2009). IDH1 mutations as molecular signature and predictive factor of secondary glioblastomas. Clin Cancer Res, 15, 6002-7. https://doi.org/10.1158/1078-0432.CCR-09-0715
  31. Ohno M, Narita Y, Miyakita Y, et al (2016). Glioblastomas with IDH1/2 mutations have a short clinical history and have a favorable clinical outcome. Jpn J Clin Oncol, 46, 31-9. https://doi.org/10.1093/jjco/hyv170
  32. Parsons DW, Jones S, Zhang X, et al (2008). An integrated genomic analysis of human glioblastoma multiforme. Science, 321, 1807-12. https://doi.org/10.1126/science.1164382
  33. Platt MY, Fathi AT, Borger DR, et al (2015). Detection of dual IDH1 and IDH2 mutations by targeted next-generation sequencing in acute myeloid leukemia and myelodysplastic syndromes. J Mol Diagn, 17, 661-8. https://doi.org/10.1016/j.jmoldx.2015.06.004
  34. Polivka J, Polivka J Jr, Rohan V, et al (2014). Isocitrate dehydrogenase-1 mutations as prognostic biomarker in glioblastoma multiforme patients in West Bohemia. Biomed Res Int, 2014, 735659.
  35. Qi S, Yu L, Li H, et al (2014). Isocitrate dehydrogenase mutation is associated with tumor location and magnetic resonance imaging characteristics in astrocytic neoplasms. Oncol Lett, 7, 1895-1902. https://doi.org/10.3892/ol.2014.2013
  36. Qi ST, Yu L, Lu YT, et al (2011). IDH mutations occur frequently in Chinese glioma patients and predict longer survival but not response to concomitant chemoradiotherapy in anaplastic gliomas. Oncol Rep, 26, 1479-85.
  37. Raveendran S, Sarojam S, Vijay S, et al (2015). Mutation analysis of IDH1/2 genes in unselected de novo acute myeloid leukaemia patients in India - identification of a Novel IDH2 mutation. Asian Pac J Cancer Prev, 16, 4095-101. https://doi.org/10.7314/APJCP.2015.16.9.4095
  38. Sanson M, Marie Y, Paris S, et al (2009). Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas. J Clin Oncol, 27, 4150-4. https://doi.org/10.1200/JCO.2009.21.9832
  39. Siegel RL, Miller KD, Jemal A, (2016). Cancer statistics, 2016. CA Cancer J Clin, 66, 7-30. https://doi.org/10.3322/caac.21332
  40. SongTao Q, Lei Y, Si G, et al (2012). IDH mutations predict longer survival and response to temozolomide in secondary glioblastoma. Cancer Sci, 103, 269-73. https://doi.org/10.1111/j.1349-7006.2011.02134.x
  41. Sonoda Y, Kumabe T, Nakamura T, et al (2009). Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. Cancer Sci, 100, 1996-8. https://doi.org/10.1111/j.1349-7006.2009.01270.x
  42. Stupp R, Brada M, van den Bent MJ, et al (2014). High-grade glioma: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol, 25, 93-101.
  43. Thon N, Eigenbrod S, Kreth S, et al (2012). IDH1 mutations in grade II astrocytomas are associated with unfavorable progression-free survival and prolonged postrecurrence survival. Cancer, 118, 452-60. https://doi.org/10.1002/cncr.26298
  44. Thota B, Shukla SK, Srividya MR, et al (2012). IDH1 mutations in diffusely infiltrating astrocytomas: grade specificity, association with protein expression, and clinical relevance. Am J Clin Pathol, 138, 177-84. https://doi.org/10.1309/AJCPZOIY3WY4KIKE
  45. Wang HY, Tang K, Liang TY, et al (2016). The comparison of clinical and biological characteristics between IDH1 and IDH2 mutations in gliomas. J Exp Clin Cancer Res, 35, 86. https://doi.org/10.1186/s13046-016-0362-7
  46. Watanabe T, Nobusawa S, Kleihues P, et al (2009). IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. Am J Pathol, 174, 1149-53. https://doi.org/10.2353/ajpath.2009.080958
  47. Yan H, Parsons DW, Jin G, et al (2009). IDH1 and IDH2 mutations in gliomas. N Engl J Med, 360, 765-73. https://doi.org/10.1056/NEJMoa0808710
  48. Yan W, Zhang W, You G, et al (2012). Correlation of IDH1 mutation with clinicopathologic factors and prognosis in primary glioblastoma: a report of 118 patients from China. PLoS One, 7, e30339. https://doi.org/10.1371/journal.pone.0030339
  49. Yao Y, Chan AK, Qin ZY, et al (2013). Mutation analysis of IDH1 in paired gliomas revealed IDH1 mutation was not associated with malignant progression but predicted longer survival. PLoS One, 8, e67421. https://doi.org/10.1371/journal.pone.0067421
  50. Zhang CB, Bao ZS, Wang HJ, et al (2014). Correlation of IDH1/2 mutation with clinicopathologic factors and prognosis in anaplastic gliomas: a report of 203 patients from China. J Cancer Res Clin Oncol, 140, 45-51. https://doi.org/10.1007/s00432-013-1519-9
  51. Zhou YX, Wang JX, Feng M, et al (2012). Analysis of isocitrate dehydrogenase 1 mutation in 97 patients with glioma. J Mol Neurosci, 47, 442-7. https://doi.org/10.1007/s12031-011-9681-5
  52. Zou P, Xu H, Chen P, et al (2013). IDH1/IDH2 mutations define the prognosis and molecular profiles of patients with gliomas: a meta-analysis. PLoS One, 8, e68782. https://doi.org/10.1371/journal.pone.0068782
  53. Zou Y, Zeng Y, Zhang DF, et al (2010). IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. Biochem Biophys Res Commun, 402, 378-83. https://doi.org/10.1016/j.bbrc.2010.10.038