Track: Clinical Studies

Topic: Neoplasia,Carcinogensis,Tumor Biology

Abstract:

The diagnosis of primary cutaneous follicle center lymphoma (PCFCL) can be challenging, including differentiation from systemic follicular lymphoma. Using next generation sequencing (NGS), we aimed to gain a deeper understanding of the genetic landscape of PCFCL, with the overall goal of enhancing diagnostic accuracy and clinical outcomes. We performed whole genome sequencing (100x coverage) on nine samples of previously diagnosed cutaneous follicular lymphoma. Among these, five samples were diagnosed as primary cutaneous follicle center lymphoma (PCFCL), two were consistent with secondary cutaneous follicle center lymphomas (SCFL), and the remaining two were unknown. Sequencing data was analyzed with the GATK Mutect2 (tumor-only mode) pipeline, and variants were annotated with SnpEff. The majority of PCFCL cases contained high impact mutations in TNFAIP3, STAT6, SOCS1, CREBBP, FOXO1, KMT2D, and BCL2. One of the SCFL cases contained high impact mutations in TNFAIP3, STAT6, FOXO1, KMT2D, and BCL2. The other SCFL case contained a high impact mutation in TNFAIP3. The results of this study implicate several genes in the pathogenesis of PCFCL, and further elucidation of recurrent genetic alteration, including in non-coding regions may be useful for the accurate identification of PCFCL. It may also prove useful in predicting systemic spread and could be a potential therapeutic target. These findings add to a crucial initial step towards establishing a genetic framework that can serve as a future diagnostic tool for identifying cutaneous lymphomas.

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Katherine Gurdziel, PhD