Open AccessMultiple Endocrine Neoplasia or Accidental Association?
Author(s) -
Georgiana Taujan,
Felicia Baleanu,
Linda Spinato,
Ruth Duttmann,
Rafik Karmali,
Laura Iconaru
Publication year - 2020
Publication title -
european journal of case reports in internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
H-Index - 1
ISSN - 2284-2594
DOI - 10.12890/2020_001818
Subject(s) - medicine , primary hyperparathyroidism , hyperparathyroidism , parathyroid carcinoma , multiple endocrine neoplasia , thyroid carcinoma , hyperplasia , thyroid , pheochromocytoma , parathyroid neoplasm , medullary cavity , medullary carcinoma , medullary thyroid cancer , thyroid cancer , pathology , endocrine system , parathyroid adenoma , gene , biology , genetics , hormone
Pheochromocytoma, papillary thyroid carcinoma and hyperparathyroidism have rarely been reported together. Whether this association is coincidental or results from an unknown genetic predisposition is difficult to ascertain. We present the case of a patient who was diagnosed with pheochromocytoma, bilateral papillary thyroid carcinoma and parathyroid hyperplasia with primary hyperparathyroidism. A genetic mutation was hypothesized as the connection between these lesions. Previously described mutations were explored.