ArticleHuman pathology2015
Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.
Article in Human pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 64 citations in OpenAlex.
- The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey.Familial cancer · 2026Article
- cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.Frontiers in endocrinology · 2026Review
- A Rare Case ofJCEM case reports · 2025Article
- The molecular genetics of adrenal cushing.Hormones (Athens, Greece) · 2024Review
- Molecular genetics of adrenal Cushing's syndrome, a Menelaos Batrinos Scholar's review, and the principle of gutta cavat lapidem in research.Hormones (Athens, Greece) · 2024Article
- Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review.Archives of endocrinology and metabolism · 2023Review
- Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.Nature reviews. Endocrinology · 2022Review
- Cushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole.The Journal of clinical endocrinology and metabolism · 2021Article
- What Did We Learn from the Molecular Biology of Adrenal Cortical Neoplasia? From Histopathology to Translational Genomics.Endocrine pathology · 2021Review
- Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.American journal of human genetics · 2020Article
- PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.Endocrine-related cancer · 2020Article
- High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia.The Journal of steroid biochemistry and molecular biology · 2019Article
- Avian genomics lends insights into endocrine function in birds.General and comparative endocrinology · 2018Review
- The Many Faces of Primary Aldosteronism and Cushing Syndrome: A Reflection of Adrenocortical Tumor Heterogeneity.Frontiers in medicine · 2018Review
- Article
- Lipofuscin Accumulation in Cortisol-Producing Adenomas With and Without PRKACA Mutations.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2017Article
- Acute vs chronic exposure to high fat diet leads to distinct regulation of PKA.Journal of molecular endocrinology · 2017Article
- Cell signaling pathways in the adrenal cortex: Links to stem/progenitor biology and neoplasia.Molecular and cellular endocrinology · 2017Review
- Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.The American journal of surgical pathology · 2017Article
- Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics.Endocrinology and metabolism clinics of North America · 2016Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
We describe the pathology of 5 patients with germline PRKACA copy number gain and Cushing syndrome: 4 males and 1 female, aged 2 to 43 years, including a mother and son. Imaging showed normal or slightly enlarged adrenal glands in 4 patients and a unilateral mass in the fifth. Biochemically, the patients had corticotropin-independent hypercortisolism. Four underwent bilateral adrenalectomy; unilateral adrenalectomy was performed in the patient with the adrenal mass. Pathologically, 3 patients, including the 1 with the tumor (adenoma), had primary pigmented nodular adrenocortical disease with extranodular cortical atrophy and mild intracapsular and extracapsular extension of cortical cells. The other 2 patients had cortical hyperplasia and prominent capsular and extracapsular micronodular cortical hyperplasia. Immunoperoxidase staining revealed differences for synaptophysin, inhibin-A, and Ki-67 (nuclei) in the atrophic cortices (patients 1, 2, and 3) and hyperplastic cortices (patients 4 and 5) and for Ki-67 (nuclei) and vimentin in the extracortical nodules in the 2 groups of patients. β-Catenin stained the cell membrane, cytoplasm, and nuclei of the adenoma. The patients were well at follow-up (1-23 years); 24-hour urinary cortisol excretion was elevated in the patient who had unilateral adrenalectomy.
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