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Recent advances in the molecular pathology of hyperparathyroidism

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Abstract

Hyperparathyroidism represents a wide spectrum of parathyroid disorders from hyperplasia to adenoma and carcinoma. These disorders can be present as primary or secondary, and as sporadic or hereditary forms. Although the incidence of hyperparathyroidism has increased dramatically, the interpretation of the parathyroid pathology is still of considerable controversy and confusion. Over the past few years, multiple genetic abnormalities have been characterized in sporadic parathyroid tumors. A majority of secondary parathyroid hyperplasia have been shown to be of monoclonal origins by clonal analysis. The ret oncogene responsible for the pathogenesis of multiple endocrine neoplasia type 2 and multiple endocrine neoplasia (MEN) 1 gene for type 1 have been cloned in succession. Mutation of the calcium-sensing receptor gene has been identified to be thegenetic trigger of neonatal severe hyperparathyroidism and familial hypocalciuric hypercalcemia. HRPT 2 gene designated for the syndrome of hereditary hyperparathyroidism and jaw tumors has recently been localized on the 1q21-23, and linkage analysis has established the presence of familial hyperparathyroidism as a distinct entity. These advances provide new insights for understanding the molecular pathology of various types of hyperparathyroidisms and allow us a precise differentiation among them. Based on the results of our study and those reported in literature, this article reviews the recent advances in the molecular basis of various hyperparathyroidisms.

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  1. Department of Pathology, Wakayama Medical College, 811-1 Kimiidera, 641-0012, Wakayama City, Wakayama, Japan

    Kennichi Kakudo MD, PhD & Liang Shan MD, PhD

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Kakudo, K., Shan, L. Recent advances in the molecular pathology of hyperparathyroidism. Endocr Pathol 10, 3–13 (1999). https://doi.org/10.1007/BF02738811

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