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Feasibility of Comprehensive Genomic Profiling for Biliary Tract Cancer Using Transpapillary Biopsy Samples: A

Kazuya Miyamoto1, Kazuyuki Matsumoto2, Toshiaki Ohara3

  • 1Department of Gastroenterology and Hepatology, Okayama University Hospital, Okayama, Japan.

Journal of Hepato-Biliary-Pancreatic Sciences
|May 6, 2026
PubMed
Summary

Comprehensive genomic profiling (CGP) of biliary tract cancer (BTC) via transpapillary biopsy (TPB) has limited suitability, though fresh-frozen samples show higher DNA quality. Further system development for fresh-frozen samples is recommended.

Keywords:
DNAbiliary tract cancerbiopsyendoscopic retrograde cholangiopancreatographygenetic profile

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Area of Science:

  • Oncology
  • Genomics
  • Gastroenterology

Background:

  • Biliary tract cancer (BTC) patients often present with actionable mutations, making comprehensive genomic profiling (CGP) crucial for treatment decisions.
  • The utility of CGP using transpapillary biopsy (TPB) samples in BTC remains under investigation.

Purpose of the Study:

  • To evaluate the feasibility and suitability of CGP from TPB samples in patients with suspected BTC.
  • To compare DNA quality indicators between formalin-fixed paraffin-embedded (FFPE) and fresh-frozen (FF) samples obtained via TPB.

Main Methods:

  • Thirty patients with suspected BTC underwent six transpapillary biopsies using an endoscopic introducer.
  • Five biopsy samples were preserved as FFPE, and one as FF for DNA analysis.
  • Suitability for CGP was assessed using the OncoGuide NCC Oncopanel System (NCCOP) and FoundationOne CDx (F1CDx).

Main Results:

  • Malignancy was confirmed in 29 patients; suitability rates for CGP were 31% for NCCOP and 3.4% for F1CDx.
  • Fresh-frozen (FF) samples showed significantly higher DNA concentration and integrity compared to FFPE samples.
  • DNA quality indicators were notably superior in FF samples (p < 0.001 for concentration, p = 0.021 for integrity).

Conclusions:

  • Introducer-assisted multipass TPB can potentially increase the yield of adequate CGP specimens for BTC.
  • The suitability of TPB for CGP is limited and highly dependent on the specific genomic panel used.
  • Establishing protocols for utilizing FF samples is desirable due to their superior DNA quality for CGP in BTC.