Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry
Authors' conclusion
These findings point to increased RET membrane expression as a promising biomarker for loss-of-function TMEM127 variants in PPGLs.
Study context
- Population
- Clinically and genetically diverse pheochromocytomas and paragangliomas (PPGLs) (formalin-fixed and paraffin-embedded (FFPE) sections)
- Participants
- 104 FFPE sections
- Comparison
- RET immunohistochemistry (IHC) expression scores in TMEM127-variant PPGLs vs other PPGL genotypes
- Outcome
- RET expression by IHC (histochemical scores: membrane, cytoplasm and total)
Performance
As reported in the abstract
RET expression score (H-S)
TMEM127
151.8
± 62
RET
69.9
± 96.8
Undefined genotype
40.8
± 69
TMEM127 vs RET: adjusted p = 0.03 · TMEM127 vs Undefined genotype: adjusted p = 0.0001
Further findings
Correlation of digital with manual histochemical scores (H-S)
- Cytoplasm H-S correlation
- 0.74
- Total H-S correlation
- 0.80
RET membrane immunoreactivity by TMEM127 variant type
- Distinguished likely damaging from non-disrupting TMEM127 variants
Original publication
Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry. J Clin Endocrinol Metab. Published 17 July 2026. doi:10.
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