Glucagon Cell Adenomatosis: A Newly Recognized Disease of the Endocrine Pancreas
| Autor: | Philipp U. Heitz, Anja Schmitt, Tobias Henopp, Aurel Perren, Anne Couvelard, Regina Schlenger, Günter Klöppel, Y. M. H. Jonkers, Natalia S. Pellegata, Attila Zalatnai, Ernst-Jan M. Speel, Klaus Peter Schaps, Martin Anlauf, Philippe Ruszniewski, Paul Komminoth |
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| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Adenoma
Adult Male endocrine system medicine.medical_specialty endocrine system diseases Endocrinology Diabetes and Metabolism Clinical Biochemistry In situ hybridization Biology Glucagonoma Biochemistry Endocrinology Germline mutation Internal medicine Proto-Oncogene Proteins medicine Humans MEN1 Multiple endocrine neoplasia 610 Medicine & health In Situ Hybridization Fluorescence medicine.diagnostic_test Biochemistry (medical) medicine.disease Glucagon Pancreatic Neoplasms medicine.anatomical_structure Von Hippel-Lindau Tumor Suppressor Protein Cancer research 570 Life sciences biology Female Pancreas Cyclin-Dependent Kinase Inhibitor p27 Comparative genomic hybridization Fluorescence in situ hybridization |
| DOI: | 10.7892/boris.75114 |
| Popis: | Glucagon-producing tumors are either solitary neoplasms of the pancreas, occasionally associated with a glucagonoma syndrome, or multiple neoplasms associated with multiple endocrine neoplasia type 1 (MEN1). We observed a previously undescribed multicentric glucagon-producing tumor disease that is not related to MEN1.Pancreatic tissue from four patients showing multiple neuroendocrine microadenomas and in two cases also macrotumors were screened for hormones using immunohistochemical and morphometric methods. MEN1, von Hippel-Lindau, and p27 germ line and somatic mutation analysis was performed. Deletion of MEN1 (11q13), von Hippel-Lindau (3p25), and the centromere 11 and 3 gene locus was determined by fluorescence in situ hybridization. DNA copy number changes were studied using array comparative genomic hybridization.The pancreatic tissue from the four patients contained more than 870 microadenomas and 10 macrotumors, all of which expressed exclusively glucagon and none of which showed evidence of malignancy. In addition, many islets were unusually large and showed glucagon cell hyperplasia. There was no clinical or molecular evidence of any hereditary tumor disease, and changes in the MEN1 gene were only seen in individual tumors. Array comparative genomic hybridization of one macrotumor and 20 pooled microadenomas revealed a homogeneous diploid chromosome set.The findings are sufficiently distinctive to suggest a new neoplastic disease of the endocrine pancreas that we recommend calling glucagon cell adenomatosis. Clinically, this disease may be an incidental finding, or it may lead to a glucagonoma syndrome. |
| Databáze: | OpenAIRE |
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