The aim of the study was to define the frequency of hereditary forms and the genotype/phenotype correlations in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.Germline mutations were detected in 32.1% of cases, but frequencies varied widely depending on the classification criteria and ranged from 100% in patients with associated syndromic lesions to 11.6% in patients with a single tumor and a negative family history. The types and number of pheochromocytomas/paragangliomas as well as age at presentation and malignancy suggest which gene should be screened first. Genomic rearrangements were found in two of 160 patients (1.2%).
ItalianPheochromocytoma/Paraganglioma Network. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional ornonfunctional paragangliomas / Mannelli, M., Castellano, M., Schiavi, F., Filetti, S., Giacchè, M., Mori, L., Pignataro, V., Bernini, G., Giachè, V., Bacca, A., Biondi, B., Corona, G., Di Trapani, G., Grossrubatscher, E., Reimondo, G., Arnaldi, G., Giacchetti, G., Veglio, F., Loli, P., Colao, A., et al.. - In: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. - ISSN 0021-972X. - ELETTRONICO. - 94(5):5(2009), pp. 1541-1547. [10.1210/jc.2008-2419]
ItalianPheochromocytoma/Paraganglioma Network. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional ornonfunctional paragangliomas.
BIONDI, BERNADETTE;COLAO, ANNAMARIA;
2009
Abstract
The aim of the study was to define the frequency of hereditary forms and the genotype/phenotype correlations in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.Germline mutations were detected in 32.1% of cases, but frequencies varied widely depending on the classification criteria and ranged from 100% in patients with associated syndromic lesions to 11.6% in patients with a single tumor and a negative family history. The types and number of pheochromocytomas/paragangliomas as well as age at presentation and malignancy suggest which gene should be screened first. Genomic rearrangements were found in two of 160 patients (1.2%).| File | Dimensione | Formato | |
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