KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas
Authors' conclusion
Unlike in GIP-dependent primary bilateral macronodular adrenal hyperplasia, KDM1A genetic variations are not the cause of GIPR expression in somatotroph pituitary adenomas. Recurrent KDM1A haploinsufficiency, more frequently observed in GIPR-expressing adenomas, could be responsible for decreased KDM1A function resulting in transcriptional derepression on the GIPR locus.
Study context
- Population
- Patients with sporadic acromegaly who had undergone pituitary surgery; somatotroph pituitary adenoma specimens
- Participants
- 146 patients
- Exposure
- Adenomas with KDM1A haploinsufficiency vs adenomas with 2 KDM1A copies
- KDM1A haploinsufficiencyn = 29
- Outcome
- KDM1A pathogenic variants in adenomas
Methodological detailsmulticentre, university hospitals in France and Italy, Targeted exome sequencing (gene panel) and array-CGH on adenoma DNA; droplet digital PCR for KDM1A and GIPR expression
- Multicentre
- University hospitals in France and Italy
- Targeted exome sequencing (gene panel) and array-CGH on adenoma DNA; droplet digital PCR for KDM1A and GIPR expression
Main finding
As reported in the abstract
Recurrent 1p deletion encompassing the KDM1A locus
29 adenomas
Observational data: associations, not effects.
Further findings
| Outcome | KDM1A haploinsufficiency | 2 KDM1A copies | P value |
|---|---|---|---|
| KDM1A expressionLower with KDM1A haploinsufficiency | 4.47 ± 2.49 | 8.56 ± 5.62 | P < 0.0001 |
| GIPR expressionHigher with KDM1A haploinsufficiency | 1.09 ± 0.92 | 0.43 ± 0.51 | P = 0.0012 |
- Paradoxical growth hormone (GH) rise · higher prevalence with KDM1A haploinsufficiency
- P = 0.0166
GH response to oral glucose load
- Unsuppressed classical GH response
- 72.6%
- Paradoxical rise in GH
- 27.4%
Original publication
KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas. Eur J Endocrinol. Published 8 February 2024. doi:10.
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