Rare correlation of somatic PRKACA mutations with pregnancy-associated aldosterone- and cortisol-producing adenomas: a case report and literature review
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View abstract on PubMed
Summary
This summary is machine-generated.Somatic PRKACA mutations may drive accelerated growth of aldosterone- and cortisol-producing adenomas (A/CPAs) during pregnancy, potentially by upregulating luteinizing hormone/chorionic gonadotropin receptor (LHCGR). This exacerbates disease progression in pregnant patients.
Area Of Science
- Endocrinology
- Oncology
- Genetics
Background
- Somatic mutations are implicated in aldosterone-producing adenomas (APAs) and may accelerate during pregnancy.
- PRKACA mutations are common in cortisol-producing adenomas (CPAs) but their role in A/CPAs is unclear.
Purpose Of The Study
- To investigate the association between PRKACA mutations and the accelerated development of aldosterone- and cortisol-producing adenomas (A/CPAs) during pregnancy.
Main Methods
- Case study of a patient with primary aldosteronism and Cushing's syndrome, including surgical resection and pathological examination.
- Somatic mutation analysis for PRKACA and immunohistochemistry for CYP11B1, CYP11B2, and LHCGR.
- Review of 20 previously documented A/CPA cases.
Main Results
- A deleterious somatic PRKACA mutation was identified in the adrenal adenoma.
- Immunohistochemistry revealed positive staining for CYP11B1, CYP11B2, and LHCGR.
- Two of 20 reviewed A/CPA cases also showed co-expression of CYP11B1 and CYP11B2.
Conclusions
- Somatic PRKACA mutations may correlate with LHCGR upregulation.
- This synergistic effect could drive accelerated growth of co-secreting tumors during pregnancy.
- This mechanism may exacerbate disease progression in A/CPAs during gestation.
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