Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.

@article{Rakheja2011IsocitrateD1,
  title={Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.},
  author={Dinesh Rakheja and Midori Mitui and Richard L. Boriack and Ralph J DeBerardinis},
  journal={Pediatric blood & cancer},
  year={2011},
  volume={56 3},
  pages={379-83}
}
BACKGROUND L-2-Hydroxyglutaric aciduria (L-2-HGA) is an uncommon inborn error of metabolism, in which the patients are predisposed to develop brain tumors. Elevated levels of D-2-hydroxyglutarate have been demonstrated with malignant gliomas and myeloid leukemias associated with somatic mutations of the genes encoding NADP(+)-dependent isocitrate dehydrogenases (IDH1 and IDH2, respectively). Recently, we noted a Wilms tumor in a child with L-2-HGA. Given the accumulating evidence that both… CONTINUE READING

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