Liquid Biopsy May Accurately Detect Genomic Mutations in Urothelial Carcinoma

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Because tissue biopsy is not always possible in patients with mUC, identifying the optimal targeted therapy or clinical trial can be challenging.
Because tissue biopsy is not always possible in patients with mUC, identifying the optimal targeted therapy or clinical trial can be challenging.

Cell-free circulating DNA (cfDNA) next-generation sequencing (NGS) via liquid biopsy may accurately detect genomic alternations in patients with metastatic urothelial carcinoma (mUC), according to a study published in Cancer.1

Because tissue biopsy is not always possible in patients with mUC, identifying the optimal targeted therapy or clinical trial can be challenging.

For this study, researchers enrolled 369 patients with lower tract mUC (mLTUC, 294 patients) or upper tract mUC (mUTUC; 75 patients). Patient blood samples were collected and analyzed using NGS.

A total of 2130 genomic alternations were detected: 1610 among patients with mLTUC and 520 among patients with mUTUC.

In the mLTUC cohort, NGS detected genomic alternations frequently noted in tumor tissues samples, including TP53, PIK3CA, ARID1A, ERBB2, and FGFR3.

No differences in the frequency of genomic alternations were noted between patients with mLTUC and mUTUC.

The authors concluded that “cfDNA-based liquid biopsy could guide and expedite clinical trial enrollment, especially in those patients who do not have archived tumor tissue readily available or in cases in which fresh tumor tissue biopsies are not feasible.

“Based on the totality of available data, it appears logical that tumor tissue and/or cfDNA may be used for clinical trial eligibility and stratification.”

Reference

  1. Agarwal N, Pal SK, Hahn AW, et al. Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA. Cancer. 2018 Mar 8. Doi: 10.1002/cncr.31314 [Epub ahead of print]

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