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BAP1-mutated renal cell carcinoma

Friday 18 January 2013

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