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Open Access 01-03-2021 | Hyperparathyroidism

Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice

Authors: C. Christofer Juhlin, Lori A. Erickson

Published in: Endocrine Pathology | Issue 1/2021

Abstract

The majority of parathyroid disease encountered in routine practice is due to single parathyroid adenoma, of which the majority arise as sporadic tumors. This is usually a straightforward diagnosis in endocrine pathology when in the appropriate clinical setting, although subsets of cases will exhibit atypical histological features that may warrant additional immunohistochemical and genetic analyses to estimate the malignant potential. Parathyroid carcinomas on the other hand, are bona fide malignant tumors characterized by their unequivocal invasion demonstrated through routine histology or metastasis. The ultimate endpoint for any molecular marker discovered through laboratory investigations is to be introduced in clinical routine practice and guide the surgical pathologist in terms of diagnostics and prognostication. For parathyroid tumors, the two main diagnostic challenges include the distinction between parathyroid adenoma and parathyroid carcinoma, as well as the pinpointing of hereditable disease for familial screening purposes. While numerous markers on genetic, epigenetic, and protein levels have been proposed as discriminative in these aspects, this review aims to condense the scientific coverage of these enigmatic topics and to propose a focused surgical pathology approach to the subject.

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Title: Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice
Authors: C. Christofer Juhlin
Lori A. Erickson
Publication date: 01-03-2021
Publisher: Springer US
Keywords: Hyperparathyroidism
Pathology
Parathyroid Cancer
Published in: Endocrine Pathology / Issue 1/2021
Print ISSN: 1046-3976
Electronic ISSN: 1559-0097
DOI: https://doi.org/10.1007/s12022-020-09656-9

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