Carney complex with adrenal cortical carcinoma
Abstract
CONTEXT: Carney complex is a genetically heterogenous multiple neoplasia syndrome. Adrenal cortical carcinoma is a rare malignancy with a poor prognosis that is not recognized to be associated with this syndrome. OBJECTIVE: We report a 22-yr-old female presenting with Carney complex who developed adrenal carcinoma. The response to adjunctive therapy is also described. METHODS: We performed a detailed pathology review of the adrenal tumor to examine morphologic changes, Ki-67 labeling, and p53 expression. We also performed genetic testing of candidate genes and describe the response to radiation and kinase inhibition therapy. RESULTS: The patient presented with an 8.5-cm adrenal mass with a MIB-1 labeling index of 20% and unequivocal angioinvasion classified as a T3NXM0 carcinoma. The nontumorous adrenal cortex revealed characteristic features of primary pigmented nodular adrenocortical disease. Genetic analysis revealed a novel PRKAR1 frame shift mutation resulting in a premature stop codon and a heterozygous p53 polymorphic substitution previously noted in other solid carcinomas. Disease recurrence in the liver showed partial response to combined stereotactic radiotherapy and sorafenib multikinase inhibition. CONCLUSION: This represents an initial characterization of a malignancy among patients with Carney complex. Our findings have implications for disease surveillance and management of individuals with this genetic syndrome.
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ACC has been reported in 2 cases of patients with Carney complex.
“Most recently, ACC has also been reported in 2 cases of patients with Carney complex (73, 74).”
From Adrenocortical carcinoma (2014) · cites this paper as [74]
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- Authors
- Morin, E., Mete, O., Wasserman, J. D., Joshua, A. M., Asa, S. L., & Ezzat, S.
- Affiliations
- University Health Network (CA)
- Corresponding author
- Ezzat, Shereen
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2012-02
- Volume
- 97
- Issue
- 2
- Pages
- E202-E206
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2001883919
- Cited by
- 69
- References
- 29
- Citations by year
- 2026: 1 · 2024: 7 · 2023: 1 · 2022: 5 · 2021: 9 · 2020: 6 · 2019: 4 · 2018: 3 · 2017: 3 · 2016: 5 · 2015: 11 · 2014: 2 · 2013: 9 · 2012: 3
- FWCI
- 4.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Epidemiology › Neuroendocrine Tumor Research Advances
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Keywords
- Carney complex, adrenocortical carcinoma, TP53 polymorphisms, primary pigmented nodular adrenocortical disease, stereotactic radiotherapy, sorafenib, liver recurrence, Ki-67 proliferation index, vascular invasion, genetic testing
- MeSH terms
- Adrenal Cortex Neoplasms, Female, Humans, Liver Neoplasms, Neoplasm Invasiveness, Adrenocortical Carcinoma, Tumor Burden, Young Adult, Carney Complex
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Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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