Developing Effective Screening Strategies in Multiple Endocrine Neoplasia Type 1 (MEN 1) on the Basis of Clinical and Sequencing Data of German Patients with MEN 1
| Autor: | Henning Dralle, Johannes Hensen, F. Spelsberg, Wolfram Karges, Peter E. Goretzki, K. Zinner, W. Höppner, U. Hering, Matthias Rothmund, J. Pickel, A. von zur Mühlen, Friedhelm Raue, G. K. Stalla, M. Engelbach, Ludwig Schaaf, M. Höfler, H. Gerl, U. Schneyer, Detlef K. Bartsch |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Oncology Pathology medicine.medical_specialty Adolescent Genotype Endocrinology Diabetes and Metabolism Nonsense mutation Neuroendocrine tumors Polymerase Chain Reaction Nuclear Family Multiple endocrine neoplasia type 1 (MEN 1) Endocrinology Germany Internal medicine Multiple Endocrine Neoplasia Type 1 Internal Medicine Humans Mass Screening Medicine MEN1 Age of Onset Child Multiple endocrine neoplasia Aged Aged 80 and over business.industry DNA General Medicine Middle Aged medicine.disease Penetrance Phenotype Female business Primary hyperparathyroidism |
| Zdroj: | Experimental and Clinical Endocrinology & Diabetes. 115:509-517 |
| ISSN: | 1439-3646 0947-7349 |
| DOI: | 10.1055/s-2007-970160 |
| Popis: | Background: Multiple-endocrine-neoplasia-type-1 (MEN1) is an autosomal-dominant inherited disorder characterized by the combined occurrence of primary hyperparathyroidism (pHPT), gastroenteropancreatic neuroendocrine tumors (GEP), adenomas of the pituitary gland (APA), adrenal cortical tumors (ADR) and other tumors. As the tumors appear in an unpredictable schedule, uncertainty about screening programs is persisting. Objective: To optimize screening and to analyze possible differences in sporadic versus familial cases. Methods: We analyzed data of 419 individuals including 306 MEN-1 patients (138 isolated and168 familial cases out of 102 unrelated families). Results: A total of 683 tumors occurred consisting of 273 pHPT, 138 APA, 166 GEP, 57 ADR, 24 thymic- and bronchial-carcinoids as well as 25 neoplasms of other tissues. The age-related penetrance was determined as 10%, 35%, 67%, 81% and 100% at 20, 30, 40, 50 and 65 years respectively. Although pHPT being the most frequent first manifestation (41%), also GEP (22%) or APA (21 %) were found to be the first presentation. APA occurred significantly more frequent (p |
| Databáze: | OpenAIRE |
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