Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis
Menée sur des échantillons prélevés, à quatre reprises au cours d'une période de 11 ans, sur un patient atteint d'une leucémie lymphocytaire chronique, cette étude de séquençage du génome entier met en évidence l'évolution du phénomène de chromothripsis et de sa réversibilité liée au traitement
The general view of cancer progression is based on a gradual evolutionary process, involving a continuous acquisition of genetic changes in individual cells with successive subclonal selection and expansion. However, whole-genome sequencing (WGS) in cancer has led to discover the chromothripsis phenomenon, in which focal regions of the genome undergo extensive chromosome fragmentation and reorganization causing structural genomic complexity in some tumor cells. Chromothripsis was first described in a chronic lymphocytic leukemia (CLL) patient with aggressive disease. Subsequent WGS has revealed chromothripsis in other tumor types, mostly associated with aggressive clinical courses...