Robust identification of conventional and leukemic nonnodal mantle cell lymphomas using epigenetic biomarkers

[...]we could prove the reliability of our DNA methylation assay in the most common types of clinical samples of MCL. The BisPyroSeq estimates of purity were highly concordant with those obtained with molecular methods such as DNA methylation arrays (median difference between methods of 4.5%; interquartile range [IQR] = 3.0%) or whole-genome sequencing (median difference between methods of 3.4%; IQR = 6.2%) as well as standard flow cytometry measurements (median difference between methods of 5.2%; IQR = 4.7%) (Supporting Information S1: Table ). [...]one C1 case was found to have the leukemic presentation and mutated IGHV status but was classified as cMCL by DNA methylation, SOX11 expression, and L-MCL16 gene expression signature. [...]we performed a clinicopathological analysis of C1 and C2 cases identified with the new methylation assay (Figure and Supporting Information S1: Tables and ).