Multiple ways to detect IDH2 mutations in angioimmunoblastic T-cell lymphoma: from immunohistochemistry to next-generation sequencing

Publication date: Available online 5 July 2018Source: The Journal of Molecular DiagnosticsAuthor(s): Aurélie Dupuy, François Lemonnier, Virginie Fataccioli, Nadine Martin-Garcia, Cyrielle Robe, Romain Pelletier, Elsa Poullot, Anissa Moktefi, Karima Mokhtari, Marie Christine Rousselet, Alexandra Traverse-Glehen, Richard Delarue, Olivier Tournilhac, Marie Hélène Delfau-Larue, Corinne Haioun, Nicolas Ortonne, Christiane Copie-Bergman, Laurence de Leval, Anaïs Pujals, Philippe GaulardAbstractAngioimmunoblastic T-cell lymphoma (AITL) is a peripheral T-cell lymphoma associated with chemoresistance and a poor prognosis. Various non-synonymous mutations in the R172 residue of IDH2 are present in 20% to 30% of AITL patients. In addition to their diagnostic value, these mutations are potentially targetable, especially by IDH2 inhibitor, and therefore their identification in a routine setting is clinically relevant. However, in AITL, the neoplastic cells may be scarce making the identification of molecular anomalies difficult. We evaluated the diagnostic value of different methods to detect IDH2 mutations in formalin-fixed, paraffin-embedded tumor samples. Immunohistochemistry with an anti-IDH2 R172K antibody, Sanger sequencing, high resolution melting PCR, allele-specific PCR (AS-qPCR), and next-generation sequencing (NGS) were applied to biopsies from 42 AITL patients. We demonstrate that the IDH2 R172K antibody is specific to this amino acid substitution and highly sensitive for...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research