In a 22-year-old female with Carney complex and adrenal cortical carcinoma, disease recurrence in the liver showed partial response to combined stereotactic radiotherapy and sorafenib.
Case Report (n=1)
This case report provides an initial characterization of adrenal cortical carcinoma in a patient with Carney complex, highlighting a novel PRKAR1 mutation and partial response to radiotherapy and sorafenib.
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.
Morin et al. (Thu,) conducted a case report in Carney complex with adrenal cortical carcinoma (n=1). Combined stereotactic radiotherapy and sorafenib multikinase inhibition was evaluated on Response to adjunctive therapy for disease recurrence in the liver. In a 22-year-old female with Carney complex and adrenal cortical carcinoma, disease recurrence in the liver showed partial response to combined stereotactic radiotherapy and sorafenib.
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