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New and Emerging Biomarkers in Endocrine Pathology

Papathomas, Thomas G., MD, PhD, FRCPath*; Nosé, Vania, MD, PhD†,‡

Advances in Anatomic Pathology: May 2019 - Volume 26 - Issue 3 - p 198–209
doi: 10.1097/PAP.0000000000000227
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Significant advances in genomics and molecular genetics in recent years have reshaped the practice of endocrine pathology. Pan-genomic studies, including the pioneering ones on papillary thyroid carcinoma, phaeochromocytoma/paraganglioma, and adrenal cortical carcinoma from the Cancer Genome Atlas (TCGA) project, provided a comprehensive integrated genomic analysis of endocrine tumors into distinct molecularly defined subtypes. Better understanding of the molecular landscape and more accurate definition of biological behavior has been accordingly achieved. Nevertheless, how any of these advances are translated into routine practice still remains a challenge in the era of precision medicine. The challenge for modern pathology is to keep up the pace with scientific discoveries by integrating novel concepts in tumor classification, molecular genetics, prognostication, and theranostics. As an example, pathology plays a role in the identification of hereditary disease, while it offers the tools for complementing molecular genetics, for example, validation of variants of unknown significance deriving from targeted sequencing or whole exome/genome sequencing approach. Immunohistochemistry has arisen as a cost-effective strategy in the evaluation either of somatic mutations in tumors and/or germline mutations in patients with familial cancer syndromes. Herein, a comprehensive review focusing on novel and emerging biomarkers is presented in order pathologists and other endocrine-related specialists to remain updated and become aware of potential pitfalls and limitations in the field of endocrine pathology.

*Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK

Department of Pathology, Massachusetts General Hospital

Department of Pathology, Harvard Medical School, Boston, MA

The authors have no funding or conflicts of interest to disclose.

All figures can be viewed online in color at www.anatomicpathology.com.

Reprints: Vania Nosé, MD, PhD, Department of Pathology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114 (e-mail: vnose@mgh.harvard.edu).

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