Publikace na Lékařská fakulta v Hradci Králové |
2021
Abstrakt
Summary: In this study, the mutational landscape of sALCL patient tumors was investigated to discover potential biomarkers that may improve risk stratification and patient management. A cohort of 82 sALCL patient tumors (47 ALK+ and 35 ALK-) and 6 ALCL cell lines were subjected to deep targeted next-generation sequencing analyzing the whole coding regions of 275 cancer related genes.
This analysis provided robust information on the genetic spectrum of genes either solely mutated in ALK- ALCL (STAT3, JAK1) or across the whole spectrum of ALCL (TP53, LRP1B, EPHA5, KMT2D). This mutational landscape provides further candidate genes that deserve consideration for thein possible role in the patient outcome, such as EPHA5, KMT2D, PRDM1 and SOCS1.