title: Carney complex with adrenal cortical carcinoma.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Medicine, University Health Network, and Hospital for Sick Children, Toronto, Ontario, Canada.
authors: Emilie
authors: E
authors: Morin
authors: Ozgur
authors: O
authors: Mete
authors: Jonathan D
authors: JD
authors: Wasserman
authors: Anthony Michael
authors: AM
authors: Joshua
authors: Sylvia L
authors: SL
authors: Asa
authors: Shereen
authors: S
authors: Ezzat
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D018268:Adrenocortical Carcinoma / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D056733:Carney Complex / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000556:secondary; D009361:Neoplasm Invasiveness; D047368:Tumor Burden; D055815:Young Adult