Study identifies genomic predictors of outcomes in high-risk bladder cancer

Primarily diagnosed in older adults, bladder cancer disproportionately affects men, striking them about three times as often as women. One form of non-invasive disease, known as high-grade T1 (HGT1) bladder cancer, comes with a higher risk of recurrence and progression to invasive disease than other forms of “superficial” bladder cancer. However, no validated models for tumor management currently exist, and recommendations range from conservative approaches to immediate surgical removal.

In a new study published online in Cancer Research, researchers led by Joaquin Bellmunt, MD, PhD, an oncologist in the Bladder Cancer Program in the Division of Hematology Oncology at Beth Israel Deaconess Medical Center (BIDMC), and David Kwiatkowski from the Brigham and Women’s Hospital performed a detailed genetic analysis of clinically annotated HGT1 tumors to identify features that may correlate with clinical outcomes.

Bellmunt and colleagues determined that tumors with high mutational burden and/or genetic mutations to the ERCC2 gene were associated with good clinical outcomes—defined as a lack of recurrence or progression of disease—and so may warrant a more conservative approach to patient care. The team also identified that mutations to the gene TP53 were linked to disease progression, suggesting patients with tumors demonstrating this characteristic may be better treated with immediate surgery.

“These findings could help determine which patients with HGT1 can safely be offered conservative management, versus those in whom surgery is preferred,” said Bellmunt. “While further validation is needed, we suggest that genetic analysis of bladder tumors may improve prediction of patients’ risk of recurrence or progression.”

Please see the publication for the full list of authors, funders and financial disclosures.