Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism
An erratum to this article was published (J Clin Endocrinol Metab, 16 Sep 2024 ↗)
Authors' conclusion
NGS allowed detection of mutations in many adrenals that tested negative at Sanger sequencing. Moreover, the different distribution of KCNJ5 mutations across IHC patterns indicates that IHC-guided sequencing protocols selecting CYP11B2-positive areas could furnish results that might not be representative of the entire mutational status of the excised adrenal, which is important at a time when KCNJ5 mutations are suggested to drive management of patients with aldosterone-producing adenomas.
Study context
- Population
- Aldosterone-producing adenomas from consenting surgically cured PA patients
- Participants
- 127 adenomas
- Comparison
- Double CYP11B1/CYP11B2 IHC patterns; Sanger sequencing vs next-generation sequencing (NGS)
- Outcome
- KCNJ5 mutation rate by IHC pattern
Methodological detailsconsecutive adenomas
- Consecutive adenomas
Main finding
As reported in the abstract
χ2
22.492
P < 0.001
By group
Further findings
Mutation detection by Sanger sequencing and NGS
- KCNJ5 mutations detected by Sanger sequencing
- 44% of adrenals
- KCNJ5 mutations revealed by NGS in Sanger-negative adrenals
- 10%
- Additional mutations revealed by NGS
- 61% of cases
Original publication
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