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Targeted next-generation sequencing of FNA-derived DNA in pancreatic cancer
  1. Babs G Sibinga Mulder1,
  2. J Sven D Mieog1,
  3. Henricus J M Handgraaf1,
  4. Arantza Farina Sarasqueta2,
  5. Hans F A Vasen3,
  6. Thomas P Potjer4,
  7. Rutger-Jan Swijnenburg1,
  8. Saskia A C Luelmo5,
  9. Shirin Feshtali6,
  10. Akin Inderson3,
  11. Alexander L Vahrmeijer1,
  12. Bert A Bonsing1,
  13. Tom van Wezel2,
  14. Hans Morreau2
  1. 1Department of Surgery, Leiden University Medical Center, Leiden, The Netherlands
  2. 2Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
  3. 3Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands
  4. 4Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
  5. 5Department of Medical Oncology, Leiden University Medical Center, Leiden, The Netherlands
  6. 6Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands
  1. Correspondence to Dr H Morreau, Department of Pathology, Leiden University Medical Center, P. O. Box 9600, Leiden 2300 RC, The Netherlands; j.morreau{at}lumc.nl

Abstract

To improve the diagnostic value of fine-needle aspiration (FNA)-derived material, we perform targeted next-generation sequencing (NGS) in patients with a suspect lesion of the pancreas. The NGS analysis can lead to a change in the treatment plan or supports inconclusive or uncertain cytology results. We describe the advantages of NGS using one particular patient with a recurrent pancreatic lesion 7 years after resection of a pancreatic ductal adenocarcinoma (PDAC). Our NGS analysis revealed the presence of a presumed second primary cancer in the pancreatic remnant, which led to a change in treatment: resection with curative intend instead of palliation. Additionally, NGS identified an unexpected germline CDKN2A 19-base pair deletion, which predisposed the patient to developing PDAC. Preoperative NGS analysis of FNA-derived DNA can help identify patients at risk for developing PDAC and define future therapeutic options.

  • DNA
  • PANCREAS
  • DIAGNOSTICS
  • CANCER
  • MOLECULAR PATHOLOGY

https://doi.org/10.1136/jclinpath-2016-203928

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    Footnotes

    • Handling editor Runjan Chetty

    • Contributors HM has initiated and coordinated the study and edited the manuscript. BGSM wrote the initial draft. JSDM. HJMH and TvW contributed to the study concept and design and critically revised the manuscript. RJS, SACL, SF, AI, ALV and BAB are the clinicians that are part of the multidisciplinary team. AFS and HGAV critically revised the manuscript. All authors have read and approved of the final version of the manuscript.

    • Funding This work was supported by the Bas Mulder Award (grant UL2015-7665) from the Dutch Cancer Society. The NGS analysis was financially supported by an institutional grant in the Leiden University Medical Center in order to install up-to-date molecular testing in the Department of Pathology with the purpose to refine primary diagnoses and for companion diagnostic stratification.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.