Carcinoma of two parathyroid glands caused by a novel MEN1 gene mutation - a rare feature of the MEN 1 syndrome.

Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome inherited in an autosomal dominant pattern, characterized by combinations of tumors of the parathyroid glands, pituitary gland, and pancreatic islet cells and more rare tumors of endocrine organs and nonendocrine tissues. Germline mutations in the MEN1 gene are responsible for the MEN 1 syndrome, leading to an inactive form of menin protein. Benign lesions of the parathyroid glands are characteristic in patients with the MEN 1 syndrome; however, patients can develop parathyroid carcinomas very rarely.

[Multiple endocrine neoplasia type 2A].

Multiple endocrine neoplasia (MEN) type 2A, or Sipple syndrome, is a rare autosomal dominantly inherited syndrome, which is characterized as combination of medullary thyroid carcinoma, pheochromocytoma, primary hyperparathyroidism, sometimes with rarer inherited disorders like Hirschsprung disease and cutaneous lichen amyloidosis. Syndrome is caused by germinative mutations in c-ret protooncogene, which are typical for different MEN 2 syndromes. We report a clinical case of MEN 2A.

[Multiple endocrine neoplasia syndromes. Type 2].

The second type of multiple endocrine neoplasia syndromes can be described as rare syndromes, heritable in autosomal dominant manner and linking medullary thyroid carcinoma to different tumors of endocrine organ system and endocrinopathies. This syndrome is divided into multiple endocrine neoplasia syndrome type 2A (MEN 2A), characterized with combination of medullary thyroid carcinoma, pheochromocytoma and primary hyperparathyroidism; type 2B (MEN 2B), characterized with combination of medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus and ganglioneuromatosis, and familial medullary thyroid carcinoma syndrome, characterized with the only indication, which is hereditary medullary thyroid carcinoma. Though type 2 multiple endocrine neoplasia syndrome has been known since 1961, yet, the cause of the syndrome, which is germline mutations of c-ret protooncogene, was detected just a decade ago and syndrome pathogenesis with its characterized endocrine neoplasia carcinogenesis machinery were detected.

[Multiple endocrine neoplasia syndroms. Type 1].

Multiple endocrine neoplasia (MEN) type 1 syndrome or Wermer syndrome is a classical malignant neoplasia syndrome, inherited in the autosomal dominant pattern, when hyperplastic and/or neoplastic injury develops synchronously or metachronously in the cells of the parathyroid gland, pancreas islets, hypophysis, and rarer in other neuroendocrine organs. The syndrome develops when germinative MEN 1--neoplasia suppression gene inactivation mutations occurs. More than 95 percent of patients have this MEN 1 gene mutation, when the penetration of mutation is almost 100 percent.