Pellegata et al. (2006) reported a 3-generation family with what appeared to be MEN1-related tumors. The proband was a 48-year-old Caucasian female who developed acromegaly and had a 3-cm pituitary tumor removed at age 30. Histology revealed an ... Pellegata et al. (2006) reported a 3-generation family with what appeared to be MEN1-related tumors. The proband was a 48-year-old Caucasian female who developed acromegaly and had a 3-cm pituitary tumor removed at age 30. Histology revealed an invasive pituitary adenoma with growth hormone hyperproduction, high mitotic activity, and cell atypia. At age 46, she was diagnosed with primary hyperparathyroidism; at the time of study, she had not yet undergone surgery. Her deceased father had acromegaly, and a brother died at age 39 from hypertension. Her older sister was diagnosed at 55 years of age with renal angiomyolipoma and that sister's son developed testicular cancer at 28 years of age.
In a 48-year-old Caucasian female with primary hyperparathyroidism and a history of pituitary adenoma (MEN4), Pellegata et al. (2006) identified a nonsense mutation in the CDKN1B gene (600778.0001). The mutation was also identified in her older sister who ... In a 48-year-old Caucasian female with primary hyperparathyroidism and a history of pituitary adenoma (MEN4), Pellegata et al. (2006) identified a nonsense mutation in the CDKN1B gene (600778.0001). The mutation was also identified in her older sister who had renal angiomyolipoma, and in her youngest sister and that sister's teenaged daughter, who reported no symptoms but did not undergo thorough examination. Samples from a nephew with testicular cancer at age 28 and from her deceased father, who had acromegaly, were not available for analysis. The mutation was not found in 380 unrelated healthy controls. No mutations in the MEN1 gene (613733) were found in the proband or her older sister.