European journal of case reports in internal medicine · 2020
Multiple Endocrine Neoplasia or Accidental Association?
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Taujan Georgiana Cristina, Baleanu Felicia, Spinato Linda, Duttmann Ruth, Karmali Rafik, Iconaru Laura
Аннотация
UNLABELLED: 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.
LEARNING POINTS: Parathyroid hyperplasia, primary hyperparathyroidism and papillary thyroid carcinoma individually are common conditions, but association with each other, although possibly incidental, should trigger genetic testing.Further research is needed to reliably explain the relationship between primary hyperparathyroidism and non-medullary thyroid cancer.
LEARNING POINTS: Parathyroid hyperplasia, primary hyperparathyroidism and papillary thyroid carcinoma individually are common conditions, but association with each other, although possibly incidental, should trigger genetic testing.Further research is needed to reliably explain the relationship between primary hyperparathyroidism and non-medullary thyroid cancer.