Gastroenterology · Oncology · 4 h ago
LC-WGS Chromosomal Instability Testing May Complement EUS-FNA Pathology
A prospective study of 51 patients with solid pancreatic lesions assessed low-coverage whole-genome sequencing (LC-WGS) for chromosomal instability (CIN) in EUS-FNA specimens. CIN analysis showed higher sensitivity than conventional pathology and identified malignancy in 9 of 12 cases with initially indeterminate, suspicious, or nondiagnostic findings.
- Prospective analysis included 51 patients with solid pancreatic lesions.
- CIN testing sensitivity was 81.6%, versus 55.3% for pathology.
- CIN identified malignancy in 9 of 12 unresolved cases.
- Combining CIN and pathology increased sensitivity to 86.8%.
Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is commonly used to assess solid pancreatic lesions, but initial pathology can be indeterminate or inconclusive. In this prospective study, researchers analyzed FNA specimens from 51 patients using low-coverage whole-genome sequencing (LC-WGS) to assess chromosomal instability (CIN). Diagnostic performance was evaluated against a composite reference standard.
Conventional pathology had a sensitivity of 55.3% and accuracy of 66.7%. CIN analysis had a sensitivity of 81.6%, specificity of 92.3%, accuracy of 84.3%, positive predictive value of 96.9%, and negative predictive value of 63.2%. Among 12 patients with indeterminate, suspicious, or nondiagnostic initial pathology, CIN identified malignancy in nine. Combining CIN with pathology increased sensitivity to 86.8% and accuracy to 88.2%.
The findings suggest CIN testing could provide complementary information when EUS-FNA pathology is nondefinitive. The cohort was small, and the reported performance was assessed against a composite reference standard; the results do not establish that this approach should replace standard pathology or demonstrate its effect on patient outcomes.
In practice
For patients with solid pancreatic lesions and indeterminate, suspicious, or nondiagnostic EUS-FNA pathology, LC-WGS-based CIN analysis may provide complementary diagnostic information: it identified malignancy in 9 of 12 such cases in this prospective cohort. The overall study included only 51 patients and used a composite reference standard. These results support further evaluation of the method but do not establish that it should replace pathology or justify changing diagnostic practice on their own.
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Annals of Surgical Oncology: LC-WGS–based Chromosomal Instability Analysis of EUS-FNA Specimens for Diagnosing Solid Pancreatic Lesions ↗This is an automated AI-condensed summary that has not yet been reviewed by an editor. Always consult the full item at the original source.