American Association of Endocrine SurgeonIs genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas?
Section snippets
Methods
Between 1985 and 2010, 109 consecutive patients with Pheo and/or secreting sympathetic thoraco-abdominal PGL were investigated and treated at the Endocrine Surgery Department of the University of Padua, Italy. The diagnosis of Pheo or functional PGL was determined by the presence of an adrenal or an extra-adrenal thoraco-abdominal tumor associated with a high level of 24-hour urinary catecholamines or catabolites. For every patient, the diagnosis was confirmed by histological examination after
Results
Complete follow-up and genetic test results were available from 71 patients (34 male, 37 female; mean age 44.8; range, 15–80 years), at a median follow-up of 126 months (range, 6–300) after initial surgery. Sixty-six patients presented at initial diagnosis with Pheo only (bilateral in 6 cases), 3 with PGL only, and 2 with both Pheo and PGL. Surgery was performed by open approach in 49 cases, by laparoscopic approach in 21 cases, and the remaining patient, who had a malignant invasive
Discussion
Our study confirmed that hereditary Pheo and/or PGL are frequent (28.2% of cases), suggesting the need for systematic genetic counseling in all patients.4, 6, 7, 9 This finding is concordant with the results of the review of the most recent literature: to date, a rate of 33.7% of genetically determined variants can be identified among the 2204 published cases.5, 6, 7, 8
However, the effective prevalence of hereditary disease is difficult to assess: most findings have been reported by tertiary
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Surgical approaches and results of treatment for hereditary paragangliomas
2019, Best Practice and Research: Clinical Endocrinology and MetabolismCitation Excerpt :In fact, compared to sporadic variants, syndromic and hereditary PGL may occur at earlier age; they may occur at multiple sites (even if asynchronously), and as a malignant or recurrent disease (Fig. 3). However, familial history may be absent because of variable penetrance of putative genes and the phenomenon of parental imprinting (as in case of SDHD mutations), simulating an apparently sporadic variant [5]. PGL are usually benign tumors, but malignancy varies between 10 and 40%; formally it cannot be predicted only by histology but should be definitively confirmed in presence of regional lymph-nodal or distant metastases to non-endocrine tissue.
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