Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate

Tumor Biology

Volumn 32, Issue 2, 2011, Pages 325-333

  Rakheja, Dinesh ^a,b   Boriack, Richard L ^a   Mitui, Midori ^a   Khokhar, Shama ^a   Holt, Shelby A ^b   Kapur, Payal ^b  

^a CHILDREN S MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

2 Hydroxyglutarate; Isocitrate dehydrogenase; Papillary thyroid carcinoma; Thyroid cancer

Indexed keywords

2 HYDROXYGLUTARIC ACID; BIOLOGICAL MARKER; DEXTRO 2 HYDROXYGLUTARIC ACID; ISOCITRATE DEHYDROGENASE (NADP); ISOCITRATE DEHYDROGENASE (NADP) 1; ISOCITRATE DEHYDROGENASE (NADP) 2; LEVO 2 HYDROXYGLUTARIC ACID; UNCLASSIFIED DRUG; 2 OXOGLUTARIC ACID; ALPHA-HYDROXYGLUTARATE; ALPHA-KETOGLUTARIC ACID; GLUTAMIC ACID; GLUTARIC ACID DERIVATIVE; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 2, HUMAN; TUMOR MARKER;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LIQUID CHROMATOGRAPHY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; THYROID NODULE; THYROID PAPILLARY CARCINOMA; UPREGULATION; CASE CONTROL STUDY; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PAPILLARY CARCINOMA; THYROID GLAND; THYROID TUMOR;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, PAPILLARY; CASE-CONTROL STUDIES; FEMALE; GLUTAMIC ACID; GLUTARATES; HUMANS; ISOCITRATE DEHYDROGENASE; KETOGLUTARIC ACIDS; MALE; MIDDLE AGED; MUTATION; THYROID GLAND; THYROID NEOPLASMS; THYROID NODULE; TUMOR MARKERS, BIOLOGICAL;

EID: 79953769366     PISSN: 10104283     EISSN: 14230380     Source Type: Journal    
DOI: 10.1007/s13277-010-0125-6     Document Type: Article

References (39)

1. Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006;29:21-9.
2. Van Schaftingen E, Rzem R, Veiga-da-Cunha M. L-2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis. 2009;32:135-42.
3. Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, et al. L-2-Hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition? Neurology. 2004;62:1882-4.
4. Wilcken B, Pitt J, Heath D, Walsh P, Wilson G, Buchanan N. L-2-Hydroxyglutaric aciduria: three australian cases. J Inherit Metab Dis. 1993;16:501-4. (Pubitemid 23206837)
5. Barbot C, Fineza I, Diogo L, Maia M, Melo J, Guimaraes A, et al. L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six portuguese pediatric patients. Brain Dev. 1997;19:268-73. (Pubitemid 27236852)
6. Ozisik PA, Akalan N, Palaoglu S, Topcu M. Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria. Pediatr Neurosurg. 2002;37:22-6. (Pubitemid 34920739)
7. Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, et al. L-2-Hydroxyglutaric aciduria and brain tumors in children with mutations in the l2hgdh gene: neuroimaging findings. Neuropediatrics. 2008;39:119-22.
8. Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol. 2009;91:233-6.
9. Larnaout A, Amouri R, Neji S, Zouari M, Kaabachi N, Hentati F. Osteoma of the calvaria in L-2-hydroxyglutaric aciduria. J Inherit Metab Dis. 2007;30:980.
10. Rogers RE, Deberardinis RJ, Klesse LJ, Boriack RL, Margraf L, Rakheja D. Wilms tumor in a child with L-2-hydroxyglutaric aciduria. Pediatr Dev Pathol. 2010.
11. Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA, et al. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell. 2010;17:225-34.
12. Gross S, Cairns RA, Minden MD, Driggers EM, Bittinger MA, Jang HG, et al. Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med. 2010;207:339-44.
13. Frezza C, Tennant DA, Gottlieb E. IDH1 mutations in gliomas: when an enzyme loses its grip. Cancer Cell. 2010;17:7-9.
14. Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature. 2009;462:739-44.
15. Hemerly JP, Bastos AU, Cerutti JM. Identification of several novel non-p.R132 IDH1 variants in thyroid carcinomas. Eur J Endocrinol. 2010;163:747-55.
16. Bleeker FE, Lamba S, Leenstra S, Troost D, Hulsebos T, Vandertop WP, et al. IDH1 mutations at residue p.R132 (IDH1 (r132)) occur frequently in high-grade gliomas but not in other solid tumors. Hum Mutat. 2009;30:7-11.
17. Murugan AK, Bojdani E, Xing M. Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer. Biochem Biophys Res Commun. 2010.
18. Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, et al. Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res. 1993;34:277-80.
19. Lu W, Kimball E, Rabinowitz JD. A high-performance liquid chromatography-tandem mass spectrometry method for quantitation of nitrogen-containing intracellular metabolites. J Am Soc Mass Spectrom. 2006;17:37-50. (Pubitemid 43033280)
20. Struys EA, Jansen EE, Verhoeven NM, Jakobs C. Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride. Clin Chem. 2004;50:1391-5. (Pubitemid 38970647)
21. 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.
22. Green A, Beer P. Somatic mutations of IDH1 and IDH2 In the leukemic transformation of myeloproliferative neoplasms. N Engl J Med. 2010;362:369-70.
23. Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361:1058-66.
24. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, et al. An integrated genomic analysis of human glioblastoma multiforme. Science. 2008;321:1807-12.
25. Struys EA, Verhoeven NM, Jansen EE, Ten Brink HJ, Gupta M, Burlingame TG, et al. Metabolism of gamma-hydroxybutyrate to D-2-hydroxyglutarate in mammals: further evidence for D-2-hydroxyglutarate transhydrogenase. Metabolism. 2006;55:353-8. (Pubitemid 43234389)
26. Struys EA, Verhoeven NM, Ten Brink HJ, Wickenhagen WV, Gibson KM, Jakobs C. Kinetic characterization of human HOT: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias. J Inherit Metab Dis. 2005;28:921-30. (Pubitemid 43168928)
27. Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolome MT, Aerssens P, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (l2hgdh) variants: a genotype-phenotype study. Hum Mutat. 2010;31:380-90.
28. Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, et al. L-2-Hydroxyglutaric aciduria: identification of a mutant gene c14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004;13:2803-11. (Pubitemid 39562544)
29. Rzem R, Veiga-da-Cunha M, Noel G, Goffette S, Nassogne MC, Tabarki B, et al. A gene encoding a putative fad-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci USA. 2004;101:16849-54. (Pubitemid 39601327)
30. Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, et al. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat. 2009;31:279-83.
31. Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, et al. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol. 2005;58:626-30. (Pubitemid 41377228)
32. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, et al. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005;76:358-60. (Pubitemid 40129562)
33. Muntau AC, Roschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, et al. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics. 2000;31:137-40.
34. Read MH, Bonamy C, Laloum D, Belloy F, Constans JM, Guillois B, et al. Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1 H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. J Inherit Metab Dis. 2005;28:1149-50. (Pubitemid 43168956)
35. Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 2008;93:36-9. (Pubitemid 350245619)
36. Yee WC. Two eminently treatable genetic metabolic myopathies. Neurol India. 2008;56:333-8.
37. Yazici N, Sarialioglu F, Alkan O, Kayaselcuk F, Erol I. L-2-Hydroxyglutaric aciduria and brain tumors: a case report and review of the literature. J Pediatr Hematol Oncol. 2009;31:865-9.
38. Rakheja D. L-2-Hydroxyglutaric aciduria and multiple acylcoenzyme a dehydrogenase deficiency are distinct metabolic disorders. J Pediatr Hematol Oncol. 2010;32:169-70.
39. Reitman ZJ, Parsons DW, Yan H. IDH1 and IDH2: not your typical oncogenes. Cancer Cell. 2010;17:215-6.