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.
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.
Authors: Kathleen M Lowe; William F Young; Charalampos Lyssikatos; Constantine A Stratakis; J Aidan Carney Journal: Am J Surg Pathol Date: 2017-02 Impact factor: 6.394
Authors: Tobias Else; Alex C Kim; Aaron Sabolch; Victoria M Raymond; Asha Kandathil; Elaine M Caoili; Shruti Jolly; Barbra S Miller; Thomas J Giordano; Gary D Hammer Journal: Endocr Rev Date: 2013-12-20 Impact factor: 19.871
Authors: Georgios Antonios Margonis; Yuhree Kim; Jason D Prescott; Thuy B Tran; Lauren M Postlewait; Shishir K Maithel; Tracy S Wang; Douglas B Evans; Ioannis Hatzaras; Rivfka Shenoy; John E Phay; Kara Keplinger; Ryan C Fields; Linda X Jin; Sharon M Weber; Ahmed Salem; Jason K Sicklick; Shady Gad; Adam C Yopp; John C Mansour; Quan-Yang Duh; Natalie Seiser; Carmen C Solorzano; Colleen M Kiernan; Konstantinos I Votanopoulos; Edward A Levine; George A Poultsides; Timothy M Pawlik Journal: Ann Surg Oncol Date: 2015-08-19 Impact factor: 5.344