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 C. Rousselet, Alexandra Traverse-Glehen, Richard Delarue, Olivier Tournilhac, Marie H. Delfau-Larue, Corinne Haioun, Nicolas Ortonne, Christiane Copie-Bergman, Laurence de Leval, Anaïs Pujals, Philippe GaulardAngioimmunoblastic T-cell lymphoma (AITL) is a peripheral T-cell lymphoma associated with chemoresistance and a poor prognosis. Various nonsynonymous 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 real-time quantitative PCR, and next-generation sequencing (NGS) were applied to biopsy specimens 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