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Chromosomal alteration patterns in PitNETs: massive losses in aggressive tumors
Endocrine-Related Cancer
|October 23, 2024
Summary
Chromosomal alterations in pituitary neuroendocrine tumors (PitNETs) can identify aggressive subtypes. A 1500-SNP test aids in diagnosing aggressive PitNETs and confirming tissue presence in non-gonadotroph tumors.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Pituitary neuroendocrine tumors (PitNETs) have limited known mutations but significant chromosomal alterations.
- A need exists for accessible diagnostic tools for PitNETs.
Purpose of the Study:
- To investigate chromosomal patterns in PitNETs using a genome-wide SNP panel.
- To correlate chromosomal alterations with tumor lineage, aggressiveness, and recurrence.
- To evaluate the utility of a SNP test for diagnosing aggressive PitNETs.
Main Methods:
- Retrospective study of 61 PitNETs.
- WHO 2022 classification for subtyping.
- Genome-wide next-generation sequencing panel (1500 SNPs) on FFPE tissues.
- Analysis of chromosomal imbalances, LOH, and CNVs.
Main Results:
- 69% of PitNETs (42/61) exhibited chromosomal alterations.
- Lactotroph PitNETs (95%) showed gained genomes and low recurrence.
- Corticotroph PitNETs (90%) had alterations; aggressive/metastatic cases displayed near-haploid/homozygous genomes.
- No significant alteration accumulation in recurrent tumors.
- A 1500-SNP test identified aggressive PitNETs via near-haploid/homozygous genomes.
Conclusions:
- Chromosomal profiling using a 1500-SNP test can identify aggressive PitNET subsets.
- This method may aid in confirming neoplastic tissue in non-gonadotroph PitNETs.
- Genomic instability is a key feature in aggressive PitNETs.
