Whole Exome Sequencing and Analysis Of Mutations In Sézary Syndrome

TitleWhole Exome Sequencing and Analysis Of Mutations In Sézary Syndrome
Publication TypeJournal Article
Year of Publication2013
AuthorsXi, L, koshalev, misha, Drummond, J, Muzny, DM, Zhang, X, Duvic, M

Sézary Syndrome (SS), the leukemic variant of cutaneous T-cell lymphoma CTCL), is characterized by generalized erythroderma and >1000 circulating central memory T-cells with a CD4+CD26- phenotype, Other clinical features include reactive adenopathy, keratoderma, ectropion, pruritus, and colonization with Staphylococcus aureus. SS can arise de novo or emerge in patients with Mycosis Fungoides (MF). Morphologically, SS cells were first recognized by their convoluted nuclei and karyotype analysis has shown the presence of multiple chromosomal abnormalities and copy number variants, none of which are disease defining; however, the mutational landscape of SS has not been investigated systematically. Here we present initial findings from profiling somatic mutation by whole exome sequencing.