Genomic Testing

Test your knowledge of this quiz on the Canadian Urological Association's recommendations for genomic profiling of tumors in prostate cancer.

Test your knowledge of this quiz on the Canadian Urological Association's recommendations for germline genetic testing in prostate cancer management.

“Our study highlights the potential of epigenomic profiling from a simple blood draw to provide a real-time, non-invasive readout of PSMA expression that corresponds with treatment response," says Jacob E. Berchuck, MD.

Data demonstrated wide variation in the proportion of patients recommended for testing and showed that barriers to testing remain.

In total, 33.3% of patients with a VUS also had positive lymph node involvement and required adjuvant ADT compared with only 16.2% of patients who did not have a VUS.

“It is critical that urologists understand when to order germline testing, are comfortable with actually ordering these tests, and integrate medical geneticists when appropriate," says Aditya Bagrodia, MD, FACS.

Patients with high P-CARE scores had an increased risk of any, metastatic, and fatal prostate cancer compared with patients with median P-CARE scores.

Patients with elevated CTC count at baseline experienced poor complete response rates and worsened PFS and OS.

“NSD2 is a cancer specific collaborator of the androgen receptor that essentially rewires its activity to support prostate cancer development," says Abhijit Parolia, PhD,

Patients who had mutations in the ERCC2, ATM, or RB1 genes were more than 5 times more likely to achieve a pathologic complete response following cisplatin-based chemotherapy.

"The scale of that linkage and the manner with which we were able to do it is really exciting and opens the door for a lot of future discovery," says Michael S. Leapman, MD, MHS.

"We wanted to look at the importance of genetic testing in patients with GU cancer and the impact that it has on their treatment decision-making, and the pathways that we put them on," says Mouneeb Choudry, MD.

"I think the biggest take-home message is just the importance of genetic testing," says Adri Durant, MD.

"Having a better understanding of which PGVs are really putting patients at an increased risk vs others, I think would definitely be something that needs more investigation," says Mouneeb Choudry, MD.

here was a higher concordance of somatic alterations between tissue and ctDNA testing in patients with metastases vs those without.

"Of patients with bladder cancer, 100% of the pathogenic variants would have been missed based on current guidelines," says Adri Durant, MD.

“By understanding the mirSNP genetic markers that predispose patients to adverse side effects from cancer therapy we can tailor these therapies to minimize harm and maximize efficacy," says Joanne B. Weidhaas, MD, PhD, MS.

This announcement follows an earlier FDA decision to grant approval to the company’s tissue-based comprehensive genomic profiling test FoundationOne CDx for the same therapy and indication in August 2023.

The positive CHMP opinion is supported by findings from cohort 1 of the phase 3 THOR trial.

"This information, and future expansions of this work could help refine the ways in which key clinical decisions are made..." says Michael S. Leapman, MD, MHS.

“Even when we adjusted for other clinical variables, like age or grade of tumor, this signature was still independently associated with recurrence after treatment for this form of kidney cancer," says Simpa S. Salami, MD, MPH.

“Maybe the most important [finding] is that urinary tumor DNA does seem to be a good tool for detecting residual disease within this patient population,” says Joshua Linscott, MD, PhD.

Patients in the Cxbladder arm had a 59% relative reduction in the number of cystoscopies performed vs those in the control arm.

Disitamab vedotin is a novel humanized anti-HER2 antibody-drug conjugate that previously demonstrated encouraging anti-tumor activity in combination with toripalimab in patients with metastatic urothelial carcinoma.

The median progression-free survival with the combination was 19.83 months.

"It's really interesting to see how potentially these differentially expressed genes could suggest a different biology based on the zone that they arose from," says Zeyad Schwen, MD.

The median OS was 14.5 months among those with high B2 expression, compared with 24.0 months among those with low B2 expression.

“The first one [is] we confirmed the prognostic value of KIM-1. Overall, in INmotion010, patients with high KIM-1 clearly had a higher risk of recurrence,” says Laurence Albiges, MD, PhD.

“We are trying to evaluate the ctDNA role in prognostication as well,” says Chinmay Jani, MD.

Benjamin L. Maughan, MD, PharmD, highlights key studies presented at the 2024 ASCO Annual Meeting regarding biomarkers and the evolution of first-line treatments in renal cell carcinoma.