Case study of a neuroendocrine tumor of uncertain origin: single-cell transcriptomics unravels potential primary location.

ABSTRACT:

Purpose

Determining the primary origin of non-organ-confined neuroendocrine tumors (NETs) for accurate diagnosis and management. Neuroendocrine tumors are rare neoplasms with diverse clinical behaviors. Determining their primary origin remains challenging in cases of non-organ-confined NETs. This study explores the histogenesis of a retroperitoneal, non-functional NET localized between the duodenum and pancreatic head, utilizing advanced molecular diagnostics to elucidate its probable primary source.

Methods

Initial diagnostic methods, including imaging and histopathology, failed to resolve the tumor's origin. The tumor was subjected to single-cell RNA sequencing (scRNA-seq) and whole exome sequencing (WES). Publicly available transcriptomic datasets from pancreatic and smal

SUBMITTER: Tatyana F 

PROVIDER: S-EPMC11688255 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature