Management and follow up of extra-adrenal phaeochromocytoma.

Abstract

INTRODUCTION:

The prevalence of phaeochromocytoma (PCC) in patients with hypertension is 0.1-0.6% and about 10% of PCCs are detected in extra-adrenal tissue. The diagnosis and therapy of this rare disease detected as a retroperitoneal tumor mass can be difficult for clinicians.

MATERIAL AND METHODS:

A PubMed database was searched for the peer-reviewed articles, the listed articles until Dec 2012 were included. Following key words were used: "extra-adrenal phaeochromocytoma", "paraganglioma", "diagnosis", "therapy", "surgery", "genetic analysis", and "SDH mutation".

RESULTS:

Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) are first choice imaging tools for PCC (sensitivity 90-100%). For the validation of the diagnosis or follow up, the functional imaging 123I-metaiodobenzylguanidine (MIBG) or Fluorine-18-L-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (excellent specificity and sensitivity of 90-100% in detection of small tumors >1-2 cm) are used. Laparoscopic surgery with complete resection is a safe and a first choice approach. The conversion (about 5%) to direct open operation was needed for large lesions (>8 cm) with the suspicion of malignancy. Currently, there are no histological criteria for distinguishing benign and malignant tumors. The genetic testing (Sanger DNA sequencing) for hereditary syndromes (von Hippel-Lindau, neurofibromatosis, etc.) is used for prediction of malignancy and recurrence. All patients should get individual and risk-adapted genetic analysis and consultation, including family members. The rate of malignancy in ePCC is about 30% (PCC about 5-10%). In patients with proven SDHB germline mutations, higher malignancy rate, multiple PCCs and recurrences are likely. A stringent lifelong clinical follow-up is recommended in these cases. Patients with syndromic hereditary forms should be screened for other often associated neoplasms.

CONCLUSIONS:

New imaging tools and genetic analysis are crucial to improve the diagnosis and prognosis of phaeochromocytoma.

• Authors: Dimitri Barski
• Journal: Central European journal of urology (Cent European J Urol) Vol. 67 Issue 2 Pg. 156-61 ( 2014) ISSN: 2080-4806 [Print] Poland
• PMID: 25140230 (Publication Type: Journal Article, Review)