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Background <p>The identification of <i>KRAS</i> mutations is increasingly crucial for managing pancreatic cancer, especially with the development of novel <i>KRAS</i> inhibitors. However, obtaining sufficient tissue for genomic profiling is often challenging. This study evaluated the clinical utility of droplet digital PCR (ddPCR) for rapid <i>KRAS</i> mutation analysis using residual cytology wash fluid from EUS-FNA.</p> Methods <p>We analyzed 38 patients with pancreatic cancer. <i>KRAS</i> mutations were measured in tumor tissue and cytology specimens using ddPCR (threshold 0.1%) and compared with next-generation sequencing (NGS) of tissue specimens (threshold 1.0%). Additionally, the concordance of ddPCR results between tissue and cytology specimens was also evaluated.</p> Results <p>The analysis completion rate for ddPCR was 100%. For the overall identification of <i>KRAS</i> mutations (presence or absence), perfect agreement (100%, 38/38 cases) was observed between tissue NGS and cytology ddPCR, and between tissue ddPCR and cytology ddPCR. The concordance for the variant with the highest allele frequency (VAF) in the comparison between tissue NGS and cytology ddPCR was 92% (35/38 cases), reaching 100% in cases with a tissue VAF &gt; 5%. Similarly, in the cross-specimen comparison between tissue and cytology using ddPCR, the concordance for the highest VAF variant was 92% (35/38 cases), with 100% (32/32 cases) agreement for specimens with a VAF &gt; 5%. These results demonstrate high consistency across both platforms and specimen types.</p> Conclusions <p>ddPCR analysis of cytology specimens is a highly viable option for <i>KRAS</i> mutation assessment. Its high sensitivity enables molecular profiling using residual diagnostic materials, facilitating rapid clinical decision-making without requiring additional tissue collection in pancreatic cancer management.</p>

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Diagnostic performance of droplet digital PCR for KRAS mutation analysis in pancreatic cancer cytology specimens

  • 期刊论文

  • 发表日期：

    2026年5月23日

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  • Kumiko Umemoto,
  • Kazunari Nakahara,
  • Nobuyuki Ohike,
  • Yusuke Satta,
  • Akihiro Sekine,
  • Yosuke Igarashi,
  • Yusuke Nagata,
  • Yohei Kubota,
  • Hiroyuki Takeda,
  • Yoshiki Horie,
  • Hiroyuki Arai,
  • Naoki Izawa,
  • Hayato Hiraki,
  • Tomoko Norose,
  • Junki Koike,
  • Ryo Matoba,
  • Satoshi Nishizuka,
  • Keisuke Tateishi,
  • Yu Sunakawa

摘要

Background

The identification of KRAS mutations is increasingly crucial for managing pancreatic cancer, especially with the development of novel KRAS inhibitors. However, obtaining sufficient tissue for genomic profiling is often challenging. This study evaluated the clinical utility of droplet digital PCR (ddPCR) for rapid KRAS mutation analysis using residual cytology wash fluid from EUS-FNA.

Methods

We analyzed 38 patients with pancreatic cancer. KRAS mutations were measured in tumor tissue and cytology specimens using ddPCR (threshold 0.1%) and compared with next-generation sequencing (NGS) of tissue specimens (threshold 1.0%). Additionally, the concordance of ddPCR results between tissue and cytology specimens was also evaluated.

Results

The analysis completion rate for ddPCR was 100%. For the overall identification of KRAS mutations (presence or absence), perfect agreement (100%, 38/38 cases) was observed between tissue NGS and cytology ddPCR, and between tissue ddPCR and cytology ddPCR. The concordance for the variant with the highest allele frequency (VAF) in the comparison between tissue NGS and cytology ddPCR was 92% (35/38 cases), reaching 100% in cases with a tissue VAF > 5%. Similarly, in the cross-specimen comparison between tissue and cytology using ddPCR, the concordance for the highest VAF variant was 92% (35/38 cases), with 100% (32/32 cases) agreement for specimens with a VAF > 5%. These results demonstrate high consistency across both platforms and specimen types.

Conclusions

ddPCR analysis of cytology specimens is a highly viable option for KRAS mutation assessment. Its high sensitivity enables molecular profiling using residual diagnostic materials, facilitating rapid clinical decision-making without requiring additional tissue collection in pancreatic cancer management.