Renal-cell carcinoma: a step closer to a new classification
Menée sur une cohorte de 145 patients atteints d'un carcinome rénal sporadique à cellules claires et validée sur une cohorte indépendante incluant 327 patients, cette étude rétrospective américaine identifie les caractéristiques clinicopathologiques de la maladie associées à des mutations des gènes BAP1 et PBRM1 et analyse les effets de ces mutations sur la survie globale des patients
Until the advent of next-generation sequencing, somatic genetic changes common in sporadic renal-cell carcinoma were largely unknown. Mutations in the VHL gene, discovered by linkage analysis in hereditary renal-cell carcinoma, had been the focus of genetics research for many years for this type of cancer. Located on chromosome 3p, VHL is a tumour suppressor gene universally mutated in the hereditary form of clear-cell renal-cell carcinoma and in the vast majority of its sporadic form. Previous studies measuring associations between VHL mutational status and clinical outcome did not detect a clear and consistent relation...
The Lancet Oncology , commentaire, 2012