Horm Metab Res 2019; 51(07): 403-413
DOI: 10.1055/a-0672-1266
Review
© Georg Thieme Verlag KG Stuttgart · New York

An Update on the Histology of Pheochromocytomas: How Does it Relate to Genetics?

Lindsey Oudijk
1  Department of Pathology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
,
José Gaal
2  Department of Pathology, Isala Clinics, Zwolle, The Netherlands
,
Karen Koopman
2  Department of Pathology, Isala Clinics, Zwolle, The Netherlands
,
Ronald R. de Krijger
3  Department of Pathology, University Medical Center/Princess Maxima Center for Pediatric Oncology, Utrecht and Reinier de Graaf Hospital, Delft, The Netherlands
› Author Affiliations
Further Information

Publication History

received 17 May 2018

accepted 02 August 2018

Publication Date:
24 August 2018 (eFirst)

Abstract

Pheochromocytomas are rare neuroendocrine tumors of the adrenal gland, whereas any extra-adrenal tumor with similar histology is designated as paraganglioma. These tumors have a very high rate of germline mutations in a large number of genes, up to 35% to 40%, frequently predisposing for other tumors as well. Therefore, they represent a phenomenal challenge for treating physicians. This review focuses on pheochromocytomas only, with special attention to gross and microscopic clues to the diagnosis of genetic syndromes, including the role of succinate dehydrogenase subunit A and subunit B immunohistochemistry as surrogate markers for genetic analysis in the field of succinate dehydrogenase subunit gene mutations.