Cushing syndrome in carney complex: Clinical, pathologic, and molecular genetic findings in the 17 affected mayo clinic patients

Kathleen M. Lowe, William F. Young, Charalampos Lyssikatos, Constantine A. Stratakis, J. Aidan Carney

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder. Seventeen had classic CS; 15 underwent bilateral, subtotal, or partial unilateral adrenalectomy, and 2 had no treatment. Pathologically, the glands were normal sized or slightly enlarged with multiple small (1 to 4 mm), brown, black, and yellow micronodules (primary pigmented nodular adrenocortical disease; PPNAD). Three glands each had a mass: a 2 cm adenoma, a 1.5 cm macronodule, and an unencapsulated 1.8 cm myelolipoma. Fourteen of the patients were alive at follow-up, and 3 were deceased; 2 of the latter had PPNAD at autopsy, and the third had PPNAD at surgery. Twelve patients without clinical features of classic CS had abnormal adrenocortical testing results; none developed classic CS during follow-up (mean, 10 y). Autopsy findings in 1 showed bilateral vacuolated cell cortical hyperplasia.

Original languageEnglish (US)
Pages (from-to)171-181
Number of pages11
JournalAmerican Journal of Surgical Pathology
Volume41
Issue number2
DOIs
StatePublished - 2017

Keywords

  • Adrenal
  • Carney complex
  • Cushing syndrome
  • Genetics
  • Pathology

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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