Targeted panel sequencing of T-cell lymphoma samples

Diagnosis of mature T- and NK-cell lymphomas is considered a challenging task and currently requires morphological expertise, integration of clinical data, immunophenotype, flow cytometry and clonality analyses. Investigation of the genetic landscape of T-cell lymphomas showed a number of diagnostically and/or therapeutically relevant mutations, but extensive genetic analyses are still expensive and time consuming, thus limiting their application in routine diagnostics. Therefore, we designed an efficient targeted next-generation sequencing panel including the commonly mutated genes in T-cell lymphoma and tested 128 samples from two German reference centers of hematopathology as part of our routine work up. Additionally, we correlated our sequencing results with data about clonally rearranged T-cell receptor genes. We were able to detect mutations in the majority (80%) of tested T-cell lymphoma samples, which enabled the precise subclassification of selected cases and/or provide therapeutically relevantinformation. This assay could be easily reproduced and applied in routine molecular diagnostic on a single samples level at low costs compared to other NGS applications. This robust and fast application provides a powerful and complementary tool to classical clonality detection in diagnosing T-cell lymphoma.