Karyotypic complexity, TP53 pathogenic variants, and increased number of variants on Next-Generation Sequencing are associated with disease progression in a North American Adult T-Cell Leukemia/Lymphoma cohort.

摘要: INTRODUCTION Adult T-Cell Leukemia/Lymphoma (ATLL) is an aggressive T-cell malignancy without known characteristic cytogenetic abnormalities. Recurrent mutations in TP53, APC, and epigenetic histone-modifying genes have been identified North American ATLL. Their roles disease progression are not yet fully elucidated. METHODS We studied the Next-Generation Sequencing (NGS) findings of ATLL cohort at our institution compared with Japanese other cohorts. also analyzed genetic variants investigated impact their on number via NGS RESULTS Cases more than 6 chromosomal breaks (n = 13) had significantly shorter overall survival to cases fewer (n = 7) (P = .0007). chromosome 3q (n = 4) exhibited worse rest (n = 16) (P = .012). Chromosomal abnormalities 3q, 14q, 1q, 1p, 17q likely primary changes based frequency association prognosis. The average was higher TP53 (n = 8) (P = .020) as well APC (n = 6) (P = .024) these genes. All were pathogenic missense truncating COSMIC database. CONCLUSION Cytogenetic methods useful tools monitor indolent assess prognosis