Cited by 69Adrenal and Paraganglionic TumorsNeuroendocrine Tumor Research AdvancesMultiple and Secondary Primary Cancers

Carney complex with adrenal cortical carcinoma

Morin, Emilie, Mete, Ozgur, Wasserman, Jonathan D., Joshua, Anthony Michael, Asa, Sylvia L., Ezzat, Shereen·2012·The Journal of Clinical Endocrinology & Metabolism

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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Registry

Crossref · 10.1210/jc.2011-2321

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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
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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