title: Synchronous adrenocortical neoplasms, paragangliomas, and pheochromocytomas: syndromic considerations regarding an unusual constellation of endocrine tumors.
abstract: The most common clinical syndromes presenting with paragangliomas and/or pheochromocytomas as their endocrine components are multiple endocrine neoplasia type 2, neurofibromatosis, Von Hippel-Lindau syndrome, Carney-Stratakis syndrome, Carney triad, and the recently described hereditary paraganglioma syndrome. Only Carney triad is known to also present with adrenocortical adenomas, currently representing the only described syndrome in which all 3 of the aforementioned tumors are found together. In most cases, prototypical lesions of the triad such as gastrointestinal stromal tumor and pulmonary chondromas are also seen. We present a case of a young woman with synchronous paragangliomas, adrenal/extra-adrenal cortical neoplasms, and pheochromocytoma without genetic mutations for multiple endocrine neoplasia 2, Von Hippel-Lindau syndrome, neurofibromatosis, and succinate dehydrogenase. We speculate that this represents a previously undescribed presentation of Carney triad and, at the very least, indicates the need for monitoring for the development of other tumors of the triad.
authors.affiliation: Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM 87131.
authors.forename: Melissa
authors.initials: M
authors.lastname: LeBlanc
authors.affiliation: Department of Endocrinology, Diabetes, and Metabolism, University of New Mexico School of Medicine, Albuquerque, NM 87131.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Tabrizi
authors.affiliation: Department of Endocrinology, Diabetes, and Metabolism, University of New Mexico School of Medicine, Albuquerque, NM 87131.
authors.forename: Patricia
authors.initials: P
authors.lastname: Kapsner
authors.affiliation: Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM 87131. Electronic address: jahanson@salud.unm.edu.
authors.forename: Joshua Anspach
authors.initials: JA
authors.lastname: Hanson
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000473:pathology* / Q000601:surgery; D002812:Chondroma / Q000473:pathology* / Q000601:surgery; D005260:Female; D006801:Humans; D007890:Leiomyosarcoma / Q000473:pathology* / Q000601:surgery; D008175:Lung Neoplasms / Q000473:pathology* / Q000601:surgery; D009378:Neoplasms, Multiple Primary / Q000473:pathology* / Q000601:surgery; D010235:Paraganglioma / Q000473:pathology* / Q000601:surgery; D010236:Paraganglioma, Extra-Adrenal / Q000473:pathology* / Q000601:surgery; D010673:Pheochromocytoma / Q000473:pathology* / Q000601:surgery; D013274:Stomach Neoplasms / Q000473:pathology* / Q000601:surgery; D055815:Young Adult
keywords: Adrenocortical neoplasms of uncertain malignant potential; Multiple endocrine neoplasia; Paraganglioma; Pheochromocytoma; Surgical pathology