Genetic testing in presymptomatic diagnosis of multiple endocrine neoplasia

Hormone Research
A CalenderC X Zhang

Abstract

Multiple endocrine neoplasias (MEN) are familial diseases characterized by endocrine neoplasms and transmitted in an autosomal dominant manner. In MEN type 1, the major lesions affect parathyroid glands, pancreatic islet cells and anterior pituitary. The MEN-1 gene has been mapped to chromosome 11q13 and a set of DNA-polymorphic markers localized close to this region provides a useful tool for presymptomatic diagnosis in MEN-1 families. MEN type 2 refers to the inherited forms of medullary thyroid carcinoma (MTC) associated or not with pheochromocytoma and hyperparathyroidism. In MEN-2, germinal mutations of the C-RET proto-oncogene which is localized on chromosome 10q11 have been found in the three clinical and allelic forms of the syndrome respectively, MEN-2 type A, B and familial isolated MTC. Mutations of C-RET are found in more than 90% of MEN-2 patients and genetic screening leads to accurate risk evaluation in families and consequently a preventive treatment of MTC and adrenal neoplasms. Recent discoveries on MEN syndromes and related familial endocrine disorders have a major clinical impact and allow a better understanding of the physiological pathways involved in familial as well as in sporadic endocrine tumor pathoge...Continue Reading

Citations

May 9, 2000·Journal of the American College of Surgeons·D M MiltenburgS Sastri
Dec 17, 2005·Thyroid : Official Journal of the American Thyroid Association·H VierhapperS Baumgartner-Parzer
Mar 9, 2002·Journal of Endocrinological Investigation·M GuerrieriA Taccaliti
Dec 6, 2005·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·O HeizmannD Oertli

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