Pancreatic Neuroendocrine Tumor: The Case Report of a Patient with Germline Mutation and Tumor Analysis Using Single-Cell RNA Sequencing

Overview

Journal J Clin Med

Specialty General Medicine

Date 2025 Jan 8

PMID 39768544

Authors

Ekaterina Avsievich

Diana Salimgereeva

Alesia Maluchenko

Zoia Antysheva

Mark Voloshin

Ilia Feidorov

Olga Glazova

Ivan Abramov

Denis Maksimov

Samira Kaziakhmedova

Natalia Bodunova

Nikolay Karnaukhov

Pavel Volchkov

Julia Krupinova

Affiliations

Soon will be listed here.

Abstract

Methods: This article describes a clinical case characterized by a progressive growth of nonfunctional PanNET requiring surgical treatment in a patient with a germline mutation, previously not reported in PanNETs. The patient underwent whole exome sequencing and single-cell RNA sequencing.

Results: The patient underwent surgical treatment. We confirmed the presence of the germline mutation and also detected the germline mutation . The cellular composition of the PanNET was analyzed using single-cell sequencing, and the main cell clusters were identified. We analyzed the tumor genomics, and used the data to define the effect the germline mutation had.

Conclusions: Analysis of the mutational status of patients with PanNET may provide additional data that may influence treatment tactics, refine the plan for monitoring such patients, and provide more information about the pathogenesis of PanNET. PanNET research using scRNA-seq data may help in predicting the effect of therapy on neuroendocrine cells with mutations.

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