Assessing the Frequency of Pathogenic Alterations in Malignant Lymph Node Cytology Specimens
Targeted next-generation sequencing has the potential to stratify a tumor by molecular subtype and aid the development of a biomarker profile for prognostic risk stratification and theranostic potential.
Mayo Clinic researchers, first author Ferga Gleeson, M.B., B.Ch., conducted a study in Gastrointestinal Endoscopy to assess the frequency and distribution of pathogenic alterations in malignant lymph node cytology specimens.
The study used a multigene molecular profiling of archived malignant EUS-FNA lymph node cytology specimens using the Ion Ampliseq Cancer Hotspot Panel v2, which targets at least 2855 possible mutations within 50 cancer-associated genes.
During the study, Mayo Clinic researchers measured the frequency and distribution of pathogenic alterations in malignant lymph node cytology specimens. Of the 76 patients, 11 were 50-gene panel wild-type and 65 had 139 pathogenic alterations in 13 of 50 evaluated genes. Pathogenic alterations were identified in the mitogen-activated protein kinase (MAPK) and phosphoinositide 3-kinase (PI3K) signaling pathways in 41 and 5 percent of patients, respectively.
Based on these results, molecular EUS lymph node assessments using cancer “hotspot” panels can identify pathogenic alteration frequency and distribution and have theranostic potential for individualized patient care.