Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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)
JournalAmerican Journal of Surgical Pathology
DOIs
StateAccepted/In press - Nov 21 2016

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Carney Complex
Cushing Syndrome
Molecular Biology
Autopsy
Myelolipoma
Adrenalectomy
Adenoma
Hyperplasia
Databases

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

Cite this

Cushing Syndrome in Carney Complex : Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. / Lowe, Kathleen M.; Young, William Francis; Lyssikatos, Charalampos; Stratakis, Constantine A.; Carney, Aidan A.

In: American Journal of Surgical Pathology, 21.11.2016.

Research output: Contribution to journalArticle

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