High level of aneuploidy and recurrent loss of chromosome 11 as relevant features of somatotroph pituitary tumors.

ABSTRACT:

Background

Somatotroph neuroendocrine pituitary tumors (sPitNET) are a subtype of pituitary tumors that commonly cause acromegaly. Our study aimed to determine the spectrum of DNA copy number abnormalities (CNAs) in sPitNETs and their relevance.

Methods

A landscape of CNAs in sPitNETs was determined using combined whole-genome approaches involving low-pass whole genome sequencing and SNP microarrays. Fluorescent in situ hybridization (FISH) was used for microscopic validation of CNAs. The tumors were also subjected to transcriptome and DNA methylation analyses with RNAseq and microarrays, respectively.

Results

We observed a wide spectrum of cytogenetic changes ranging from multiple deletions, recurrent chromosome 11 loss, stable genomes, to duplication of the majority

SUBMITTER: Rymuza J 

PROVIDER: S-EPMC11536836 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature