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Menin and MEN 1 gene: a model of tumour suppressor system.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Hory, Bernard Drüeke, Tilman Bernhard |
| Copyright Year | 1998 |
| Abstract | of malignant transformation. Overexpression of oncoIn 1954, Wermer reported for the first time the simulgenes on the one hand, and inactivating mutations or taneous occurrence of adenomas of the anterior pituitdeletions of tumour suppressor genes on the other, may ary, the parathyroids, and the islets of the pancreas in cause transformation of specific target cells. At least 10 a man and four women of the same family. He tumour suppressor genes are known at present, includconcluded that this adenomatosis was probably of ing Wilms’ tumour (WT ) suppressor gene, von Hippel– genetic origin [6 ]. He underlined that ‘in contrast to Lindau (VHL) gene, and retinoblastoma (RET) gene, what is seen in the usual case of 1° HPTH, the to name but a few of particular interest to the clinical parathyroids show involvement of all four glands.’ He nephrologist. Loss of function of these genes, which hypothesized that the mode of inheritance was probusually imposes some constraint on the cell cycle making ably dominant, due to a single gene, with a high degree cells proliferate more rapidly, promotes the occurrence of penetrance and expressivity, and postulated that the and the progression of various types of cancer, such as gene should play a role in the control of normal and Wilms’ tumour [1], renal-cell carcinoma [2,3], and pathological growth of endocrine tissue. sporadic malignant parathyroid tumour [4]. MEN 1 is an autosomal dominant familial cancer Among the familial forms of hyperparathyroidism, syndrome characterized by tumours of parathyroids, multiple endocrine neoplasia (MEN) constitues a fascinpancreas, duodenal endocrine, and anteropituitary ating group of proliferative multicentric disorders targetcells. It is defined as the occurrence of at least two ing various endocrine glands, dispersed endocrine cells major lesions of classical MEN 1 in the same patient and, in some cases, neurons and their supporting eleand one lesion in first degree relatives or one lesion ments [5]. MEN includes three syndromes, namely either in parathyroids, pancreas, or pituitary in three MEN 1 (Wermer’s syndrome) [6 ], MEN 2A (Sipple’s first-degree relatives [11]. In unselected autopsies, the syndrome) and MEN 2B. MEN 1 is characterized by incidence of MEN 1 seems to be up to 0.25% [12]. the association of endocrine adenomas in the paraHPTH is the most common clinically evident componthyroid, the pituitary, and the pancreas or small intestine ent of MEN 1 and its prevalence is over 90% at the (see below). In MEN 2A enlarged parathyroids are age of 40. Diagnosis of MEN 1-related HPTH can be associated with thyroid medullary carcinoma and delayed by several years because hypercalcaemia generphaeochromocytoma, and in MEN 2B [5] medullary ally remains asymptomatic in the early stage of the thyroid carcinoma is associated with phaeochromodisease [13]. Unlike sporadic HPTH which affects cytoma and ocular/oral neuromas with gastrointestinal more frequently women, the HPTH of MEN 1 occurs ganglioneuromatosis. They are usually inherited as equally in both sexes, and patients with MEN 1 are autosomal dominant traits but may also occur in a usually younger at the time of diagnosis [5,7,9]. MEN sporadic fashion. Interestingly, tumours are preceded 1-associated enlargment of the parathyroid is multiin their development by phases of endocrine-cell glandular and asymmetric, frequently with one or two hyperplasia [5,7–9]. glands of normal or minimally enlarged size [14]. From |
| Starting Page | 026202 |
| Ending Page | 026202 |
| Page Count | 1 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://oup.silverchair-cdn.com/oup/backfile/Content_public/Journal/ndt/13/9/10.1093_oxfordjournals.ndt.a027909/1/2193.pdf?Expires=1492646160&Key-Pair-Id=APKAIUCZBIA4LVPAVW3Q&Signature=Aw4R1US6S2zwX8dGEhk8miaJ92FEZZ--0FEfyjbI7hsitq49GW8hUOEsxKcimgN8pro-bkWFJb9G~sUipZiHbzsz4ZvyO3fP-JP3qDqOs48W49TqPZefY86k6ec~01Ppe2T6kAqxg779e9g8TXTZCU6n3twSG3Xr1etHeEVnvPpZux9NGepVuKPso5cnY6gCGx-mogf~qUNaCUN5srczxBD-7EBnTJLMZVExJRRpO93h7UxCkvmydofwZb4WpGrlIhgGArQ2xc8EqJjuHdSraYIOE8lF8g1q8BfiZYgK1ILIhmAEJD6zKJGmrofB00rumDtNxSx7mwbFM50KnzXyNA__ |
| PubMed reference number | 9761488v1 |
| Volume Number | 13 |
| Issue Number | 9 |
| Journal | Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Adenoma Autopsy Autosomal dominant inheritance Blood Coagulation Disorders Cervical Squamous Intraepithelial Neoplasia Duodenum Endocrine Gland Neoplasms Endocrine Glands Enlargement procedure Ganglioneuromatosis Hereditary Malignant Neoplasm Hypercalcemia Hyperparathyroidism Limited stage (cancer stage) MEN1 gene Malignant Childhood Central Nervous System Neoplasm Medullary carcinoma of thyroid Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2a Multiple Endocrine Neoplasia Type 2b Mutation Nephroblastoma Neuroma Pancreas extract Parathyroid gland Patients Penetrance Renal Cell Carcinoma Small Intestinal Wall Tissue Thyroid carcinoma Von Hippel-Lindau Syndrome adenomatosis autosomal dominant trait |
| Content Type | Text |
| Resource Type | Article |
