ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2006) 11 P528

Characterization of familial non-syndromic pheochromocytoma

G Opocher, F Schiavi, M Iacobone, S Sattarova, Z Erlic, M Martella, C Mian, L Zambonin, P De Lazzari, A Murgia, G Favia & F Mantero

University of Padova, Padova, Italy.

Hereditable forms account for 30–40% of pheochromocytomas (pheo). The role of germ-line mutation of VHL, RET, SDHB, SDHD gene has been largely elucidated. However, genotyping a group of 172 sporadic or familial pheo, we have characterize five unrelated probands with familial pheo without any sequence variants of RET (7 exons), or of the entire coding sequence of VHL, SDHB, SDHC or SDHD.

The proband #1 had a bilateral pheo when 32 and a local recurrence at 48. His brother died of malignat pheo and his nephew died suddenly for an undiagnosed pheo. The proband #2 had a 5 cm benign adrenal pheo at 34, her cousin had a monolateral pheo at 42. The proband #3 had a bilateral pheo at 66. Her sister had a bilateral pheo and a breast cancer at 54. Several other tumors have been recorded in this family, including larynxs cancer, leukaemia and medullary thyroid carcinoma (MTC). MTC was excluded in the proband and in her sister. The proband #4 had a bilateral pheo at 46 and few years later liver metastasis. Her brother had a monolateral benign pheo. The proband also had a melanoma and bilateral renal cysts. In this case a VHL sequence variant IVS2+43 A>G was found. The same sequence variant was found in one other unrelated sporadic pheo. The proband #5 had a monolateral pheo at 50 and breast cancer at 49; her mother had a pheo at 61.

Despite other molecular mechanisms, as particular intronic variants and partial gene deletions, cannot be excluded, we think that the description of families with non syndromic pheo with any mutation of RET, VHL, SDHB, SDHC or SDHD may argue in favor of the presence of others pheo related genes.

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