BAP1-mutated renal cell carcinoma

Pathology

 BAP1 is mutated in clear-cell renal-cell carcinoma

• BAP1 is mutated in about 15% of clear-cell renal-cell carcinoma.
• BAP1 and PBRM1 mutations are largely mutually exclusive.
• BAP1 and PBRM1 mutation-defined subtypes of clear-cell renal-cell carcinoma with distinct clinical outcomes, a high-risk BAP1-mutant group and a favourable PBRM1-mutant group.
• The molecular genetic classification of clear-cell renal-cell carcinoma could influence treatment decisions in the future.
• The existence of different molecular subtypes with disparate outcomes should be considered in the design and assessment of clinical studies.

References

 Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation. Payal Kapur et al. The Lancet Oncology, Early Online Publication, 16 January 2013. doi : 10 1016/S1470-2045(12)70584-3