Discordant intracellular and plasma D-2-hydroxyglutarate levels in a patient with IDH2 mutated angioimmunoblastic T-cell lymphoma

Hywyn Churchill, Harris Naina, Richard Boriack, Dinesh Rakheja, Weina Chen

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Objectives: Angioimmunoblastic T-cell lymphoma (AITL) is an aggressive peripheral T-cell lymphoma with mutations in genes encoding isocitrate dehydrogenase1 and 2 (IDH1 and IDH2). Mutant IDH generates the oncometabolite D-2-hydroxyglutarate (D-2HG). We report the first case of discordant intracellular and plasma D-2HG levels in a patient with IDH2 R172S mutated AITL. Methods: An 87-year-old woman was diagnosed with AITL in the groin lymph node by morphologic and immunophenotypic analyses, and molecular studies by DNA sequencing. D-2HG was measured in both tumoral tissue and in pre-treatment plasma by liquid chromatography-tandem mass spectrometry. Results: While D-2HG was markedly elevated in the tissue sample, its level in plasma was normal. We discuss this discordant D-2HG result within the context of previously reported discordant 2HG results in other IDH mutated tumors, and its implication for using circulating D-2HG as a biomarker of IDH mutation. In addition, this case also harbored mutations in RHOA, TET2, and TP53. The molecular pathogenesis is briefly discussed. Conclusion: While our case suggests that circulating D-2HG is not a reliable marker of IDH mutation in AITL, more cases need to be studied to arrive at a definite conclusion.

Original languageEnglish (US)
Pages (from-to)11753-11759
Number of pages7
JournalInternational Journal of Clinical and Experimental Pathology
Volume8
Issue number9
StatePublished - 2015

Keywords

  • Angioimmunoblastic T-cell lymphoma
  • D-2-hydroxyglutarate
  • IDH mutation
  • RHOA mutation
  • TET2 mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

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