[Multiple endocrine neoplasia type 1 variants and phenocopies].

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary disease due to a mutation in the MENI tumor suppressor gene. The risk of the disease in first-degree relatives of MEN1 mutation carriers is 50%. MENI gene mutations are not identified in 10-30% of familiar MEN1 patients and in 60-80% of sporadic MEN1 cases, which can be explained by mutations in the noncoding regions of the MEN1 gene, large gene deletions or mutations in other yet unknown genes. Molecular genetic testing can exclude the diagnosis of MEN1 in patients who do not harbor the MEN1 mutation, thus revealing a MEN1 phenocopy. This obviates the need for annual screening for the early detection of other remaining components of the disease and its risk in progeny.

[Prognostic value of of the expression Ki-67, CD31, and VEGF in somatotropinomas].

Pituitary adenomas are benign, but 30-50% of patients do not achieve remission after treatment. The purpose of the study was to analyze the prognostic value of immunoexpression of the proliferation marker Ki-67 and the angiogenetic factors CD31 and VEGF in somatotropinomas. Ki-67, CD31, and VEGF were immunohistochemically studied in the samples of 52 somatotropin-removed samples; medical records were used to analyze the outcome of treatment in the early and late postoperative periods. Ki-67 immunoexpression proved to be significantly higher in the patients who had not achieve remission both in the early (p = 0.042) and late (p = 0.012) postoperative period than in those who had achieved remission and in patients who were resistant to postoperative treatment with somatostatin analogues (p = 0.040) than in those who were sensitive to therapy. The immunoexpression of CD31 and VEGF was not associated with the outcome of treatment. Thus, high Ki-67 levels may be regarded as a poor postoperative prognostic factor in acromegaly.