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2016 ; 23
(6
): R229-47
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Endocrine neoplasms in familial syndromes of hyperparathyroidism
#MMPMID27207564
Li Y
; Simonds WF
Endocr Relat Cancer
2016[Jun]; 23
(6
): R229-47
PMID27207564
show ga
Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia
type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the
hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary
hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also
associated with a range of endocrine and nonendocrine tumors, including potential
malignancies. Complications of the associated neoplasms are the major causes of
morbidities and mortalities in these familial syndromes, e.g., parathyroid
carcinoma in HPT-JT syndrome; thymic, bronchial, and enteropancreatic
neuroendocrine tumors in MEN1; and medullary thyroid cancer and pheochromocytoma
in MEN2A. Because of the different underlying mechanisms of neoplasia, these
familial tumors may have different characteristics compared with their sporadic
counterparts. Large-scale clinical trials are frequently lacking due to the
rarity of these diseases. With technological advances and the development of new
medications, the natural history, diagnosis, and management of these syndromes
are also evolving. In this article, we summarize the recent knowledge on
endocrine neoplasms in three familial hyperparathyroidism syndromes, with an
emphasis on disease characteristics, molecular pathogenesis, recent developments
in biochemical and radiological evaluation, and expert opinions on surgical and
medical therapies. Because these familial hyperparathyroidism syndromes are
associated with a wide variety of tumors in different organs, this review is
focused on those endocrine neoplasms with malignant potential.