Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice
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Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice C. Christofer Juhlin1,2 · Lori A. Erickson3 Accepted: 24 November 2020 © The Author(s) 2020
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. Keywords Parathyroid tumors · Primary hyperparathyroidism · Pathology · Genetics · Review
Introduction General Background In the clinical setting, the tumor responsible for primary hyperparathyroidism (PHPT) is usually a parathyroid adenoma. The vast majority of parathyroid adenomas are functioning due to an altered set point in terms of calcium sensing mechanisms, and the ensuing parathyroid hormone (PTH) secretion leads to hypercalcemia that may cause diverse symptoms in the afflicted patient [1]. However, the majority of parathyroid adenomas are identified through serum calcium screening. The peak incidence is among 50–60-year-old individuals, and the female to male * C. Christofer Juhlin [email protected] 1
Department of Oncology‑Pathology, Karolinska Institutet, Solna, Sweden
2
Department of Pathology and Cytology, Karolinska University Hospital, Stockholm, Sweden
3
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
ratio increases with increased age at diagnosis, reaching 5:1 among patients > 75 years of age [2]. The treatment is surgical, and cure rates at tertiary centers are usually high [3]. Most cases are preoperatively localized using combinations of various imaging techniques, such as neck ultrasound, single-photon emission computed tomography (SPECT/ CT), and/or technetium (99mTc) sestamibi scintigraphy, and the endocrine surgeon can thus plan for a focused parathyroidectomy [4, 5]. Although the bulk of PHPT cases are sporadic tumors arising through the somatic
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