Hereditary Pheochromocytoma

• Type: Another Publication in an International Scientific Journal
• Date: 2014

Authors

Santos, P (Author) Other; Pimenta, T (Author) Other; Gomes AT (Author) FMUP

Journal

Title: International Journal of Surgical Pathology

Vol. 22

Pages: 393-400

ISSN: 1066-8969

Publisher: SAGE

Indexing

ISI Web of Knowledge - 19 Citations

Scopus - 22 Citations

Other information

Authenticus ID: P-009-QRG

DOI: 10.1177/1066896914537683

Abstract (EN): Introduction. Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare neuroendocrine tumors with an estimated occurrence of 2 to 5 patients per million per year and an incidence of about 1 per 100 000 in the general population. These tumors may arise sporadically or be associated to various syndromes, namely multiple endocrine neoplasia type 2, neurofibromatosis type 1, Von Hippel-Lindau syndrome, and hereditary paraganglioma-pheochromocytoma syndromes. Objectives. This article aims to review the current epidemiology, pathogenesis, clinical presentation, and genetic aspects of syndromes associated with hereditary PHEO/PGL. Methods. The literature research, conducted at PubMed database, included review articles, published from February 2009 to February 2014, written in English or Portuguese, using as query: "Hereditary AND Pheochromocytoma." Conclusion. These tumors can be part of a myriad hereditary conditions that are not yet fully understood. Nevertheless, important systemic symptoms and even fatal outcomes can occur. Knowledge of these hereditary conditions can ensure a more efficient detection, treatment, and even prevention of these neuroectodermal tumors, thus new tests and studies should be conducted.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8