Carney complex with adrenal cortical carcinoma

J Clin Endocrinol Metab. 2012 Feb;97(2):E202-6. doi: 10.1210/jc.2011-2321. Epub 2011 Nov 23.


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.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Neoplasms / complications*
  • Adrenal Cortex Neoplasms / diagnosis
  • Adrenal Cortex Neoplasms / pathology
  • Adrenocortical Carcinoma / complications*
  • Adrenocortical Carcinoma / diagnosis
  • Adrenocortical Carcinoma / pathology
  • Carney Complex / complications*
  • Carney Complex / diagnosis
  • Carney Complex / pathology
  • Female
  • Humans
  • Liver Neoplasms / secondary
  • Neoplasm Invasiveness
  • Tumor Burden
  • Young Adult