Assessing the Frequency of Pathogenic Alterations in Malignant Lymph Node Cytology Specimens

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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.

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Ferga Gleeson, M.B., B.Ch.

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.

Click here for more information on Mayo Medical Laboratories' 50-gene cancer panel test. Read the Test in Focus to learn more about the test's uses and how to order.

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Kelley Schreiber

Kelley Schreiber is a Marketing Channel Manager at Mayo Medical Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her new kitten, and exploring new foods.