Genes of the “regulation of lymphocyte activation” pathway may influence immune cells infiltration in growth hormone secreting pituitary tumors
Authors' conclusion
This study provides new insights into the genetic basis of the TME in somatotropinomas and suggests that genetics may influence immune cells infiltration in acromegaly.
Study context
- Population
- Patients with acromegaly (growth hormone (GH)-secreting pituitary adenomas) and controls; clinical exome sequencing
- Participants
- 85 patients
- Exposure
- Acromegaly patients with vs without pathogenic variants in "regulation of lymphocyte activation" pathway genes
- Acromegalyn = 46
- Controlsn = 39reference
- Outcome
- Pathogenic variant in ≥1 of FANCD2, SPTA1, TYRO3, ZNF335 (acromegaly patients)
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Acromegaly
72%
33 of 46
- Unique genetic variants in acromegaly patients
- 5759
Observational data: associations, not effects.
Further findings
Tumour inflammatory infiltrate: patients with vs without pathogenic pathway variants
- Higher number of CD68+ macrophages with pathogenic variants
- P = 0.008
- Lower number of CD8+ T lymphocytes with pathogenic variants
- P = 0.037
- Higher CD68+ macrophages/CD8+ T-lymphocytes ratio with pathogenic variants
- P = 0.004
- Histological samples in 26 patients
Original publication
Genes of the “regulation of lymphocyte activation” pathway may influence immune cells infiltration in growth hormone secreting pituitary tumors. Pituitary. Published 26 May 2025. doi:10.
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