Molecular diagnostic testing of diffuse gliomas in the real-life setting: A practical approach.

Molecular diagnostic testing of diffuse gliomas in the real-life setting: A practical approach. Clin Neuropathol. 2018 Jun 20;: Authors: Bieńkowski M, Wöhrer A, Moser P, Kitzwögerer M, Ricken G, Ströbel T, Hainfellner JA Abstract Typing of diffuse gliomas according to the WHO 2016 Classification of Tumors of the Central Nervous System is based on the integration of histology with molecular biomarkers. However, the choice of appropriate methods for molecular analysis and criteria for interpretation of test results is left to each diagnostic laboratory. In the present study, we tested the applicability of combined immunohistochemistry, direct sequencing, and multiplex ligation-dependent probe amplification (MLPA) for diagnostic assessment of <i>IDH1/2</i> mutation status, chromosome 1p/19q status, and <i>TERT</i> promoter mutations. To this end, we analyzed a consecutive series of 165 patients with diffuse low- and high-grade gliomas (WHO grade II and III) from three Austrian centers in which tissue specimens were routinely processed. We could reliably detect <i>IDH1/2</i> mutations by combining immunohistochemistry, direct sequencing, and MLPA analysis. MLPA analysis also allowed reliable detection of combined whole chromosomal arm 1p/19q codeletion when using carefully selected criteria providing an optimal balance between sensitivity and specificity. Direct sequencing proved to be suitable for...
Source: Clinical Neuropathology - Category: Pathology Authors: Tags: Clin Neuropathol Source Type: research