phs000859
Integrated Genomic Analysis of Sezary Syndrome
Sezary syndrome is an aggressive, leukemic variant of cutaneous T-cell lymphoma. Sezary syndrome typically arises de novo and is characterized by generalized erythroderma and less than 1000/microL circulating central memory T-cells with a CD4+CD7-CD26- phenotype. The prognosis of Sezary syndrome patients is very poor, with the median overall survival of 2.4 years post diagnosis. Despite numerous efforts over the past several decades, the pathogenic mechanism underlying Sezary syndrome is still poorly understood. So far, no molecular target has been identified for treatment of the disease. In collaboration with the Department of Dermatology at the University of Texas MD Anderson Cancer Center, the Human Genome Sequencing Center at Baylor College of Medicine performed whole-exome sequencing, mRNA sequencing and high-resolution SNP arrays to characterize the profile of somatic mutations, aberrant expression, fusion genes and somatic DNA copy number alterations. The deposited... (for more see dbGaP study page.)