Analysis of Driver Mutational Hot Spots in Blood-Derived Cell-Free DNA of Patients with Primary Central Nervous System Lymphoma Obtained before Intracerebral Biopsy

In newly diagnosed systemic diffuse large B cell lymphoma (DLBCL) next generation sequencing of plasma derived cell free DNA (cfDNA) detects somatic mutations as accurate as genotyping of the tumor biopsy. A distinct DLBCL entity confined to the central nervous system (CNS) is primary CNS lymphoma (PCNSL), which requires intracerebral biopsy and neuropathological analysis to establish the diagnosis. So far, a biomarker for diagnosis and follow-up of PCNSL that can be investigated in blood has not been identified.

Source: Journal of Molecular Diagnostics - July 30, 2020 Category: Pathology Authors: Manuel Montesinos-Rongen, Anna Brunn, Armin Tuchscherer, Peter Borchmann, Elisabeth Schorb, Benjamin Kasenda, Janine Altm üller, Gerald Illerhaus, Maximilian I. Ruge, Mohammad Maarouf, Reinhard Büttner, Martin-Leo Hansmann, Michael Hallek, Marco Prinz, Tags: Regular Article Source Type: research