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Of the commonly mutated genes, DNMT3A, IDH2, RHOA and TET2, only IDH2 R172Kshowed a significant association (p=0.012) with chr 5 gain. Molecularly re-classified AITL cases from morphologically classified PTCL-NOS cases showed concordant results with bonafide AITL cases. No recurrent losses (≥20%) were identified among these cases. Interestingly, chr 21 gain co-occurred with chr 5 gain (p=0.003).
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The most recurrent CNV in AITL was chromosome (chr) 5 gain (39%), followed by chr 21 gain (21%). 2010, 2014).Īngioimmunoblastic T-cell lymphoma (AITL) represents 20% of all PTCL cases. The gene expression analysis, morphological review and clinical characteristics of these cases have been included in previous studies (Iqbal et al. Two published cohorts (PTCL-NOS, Hartmann et al. Therefore, we analyzed copy number variation (CNV) and GEP to identify unique genetic abnormalities in the defined PTCL molecular subgroups.ĬNV data were generated on fresh frozen or formalin-fixed paraffin-embedded genomic DNA (n=114) on 3 Affymetrix platforms (SNP 6.0, 250K SNP, and OncoScan). Although genomic information is increasing, the pathogenetic mechanisms of PTCLs remain largely unknown. We have also shown associations of specific mutations with the molecular subgroups (Wang et al. Using gene expression profiling (GEP), we have defined molecular classifiers for PTCL subtypes reflecting their pathobiology and oncogenic pathways (Iqbal et al. Peripheral T-cell lymphoma (PTCL) is a group of clinically and pathologically heterogeneous non-Hodgkin lymphomas (NHL).