2023-05-17 12:13:49
In a new Danish study, endo-ultrasound-guided through-the-needle-biopsy (TTNB) samples were analyzed using next-generation sequencing (NGS). NGS was found to have high sensitivity and specificity for the diagnoses of mucinous cyst and intraductal papillary mucinous neoplasm (IPMN).
Pancreatic cancer has a poor prognosis with a 5-year survival rate below 10% and is estimated to be the second leading cause of cancer-related death by 2030. New developments have led to the introduction of molecular subtyping of pancreatic cystic lesions (PCLs) as a possible addition to the diagnostic algorithm for pancreatic carcinoma.
A Danish research group performed this prospective study on the feasibility and diagnostic accuracy of molecular analysis and subtyping of PCLs using the recently introduced endoultrasound (EUS)-guided TTNB sampling. The researchers included 101 patients with PCLs of > 15 mm (largest diameter). They obtained the EUS-guided TTNB samples with a needle (19 gauge diameter) guided microforceps device. Subsequently, the samples were analyzed by NGS for point mutations in tumor suppressor genes and oncogenes with a ‘hot spot panel’ of 51 genes.
The samples were first examined microscopically. Thereafter, 91 patients had residual TTNB samples available for NGS. Of these, 49 were found to have mutations, with KRAS and GNAS mutations being the most common. This reflects that IPMN was excessive in the study population.
The sensitivity and specificity of the method was calculated using the histological diagnosis as reference. Sensitivity was 83.7% (95%CI: 70.3-92.7) and specificity 81.8% (95%CI: 48.2-97.7) for the diagnosis of mucinous cyst. For the diagnosis of IPMN, both measures of diagnostic accuracy were slightly higher with a sensitivity of 87.2% (95%CI: 74.2-95.2) and a specificity of 84.6% (95%CI: 54.5- 98.1). Adverse events occurred in 9.9% of cases.
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