Molecular typing and mutational characterization of rectal neuroendocrine neoplasms.

ABSTRACT:

Background

Rectal neuroendocrine neoplasms (NENs) are rare neoplasms with limited understanding of its genomic alterations and molecular typing.

Methods

The paraffin-embedded tissue specimens of 38 patients with rectal NENs after surgery were subjected to whole gene sequencing (WGS), and mutation profilings were drawn to identify high-frequency mutation genes, copy-number variations (CNVs), tumor mutation burden (TMB), signal pathways, mutation signatures, DNA damage repair (DDR) genes, and molecular types. The differences of mutated genes and signaling pathways in different pathological grades and metastatic/non-metastatic groups were compared. It helped to search for potential targets.

Results

C > T and T > C transitions are the most common base substitutions in rec

SUBMITTER: Duan X 

PROVIDER: S-EPMC10469650 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature