PMID- 12860285 OWN - NLM STAT- MEDLINE DCOM- 20030925 LR - 20190720 IS - 0304-3835 (Print) IS - 0304-3835 (Linking) VI - 196 IP - 1 DP - 2003 Jun 30 TI - Bi-allelic inactivation of the MEN1 tumor suppressor gene in human grade II astrocytoma. PG - 23-7 AB - In humans and gene-targeted mice, loss of multiple endocrine neoplasia type 1 (MEN1) tumor suppressor gene function causes neuroendocrine tumors, frequently of the parathyroid and pituitary glands and the pancreas. The MEN1 gene product interacts with glial fibrillary acidic protein (GFAP) in the brain. We here demonstrate bi-allelic MEN1 inactivation in a grade II astrocytoma in an individual carrying a heterozygous MEN1 germ line deletion mutation (788del6). This tumor represents a novel, non-endocrine MEN1-phenotype, compatible with a role of MEN1-GFAP in glial oncogenesis. Clinically, a genetic predisposition to variant neoplasias should be considered in the management of MEN1 patients. FAU - Karges, Wolfram AU - Karges W AD - Division of Endocrinology, Department of Internal Medicine 1, University of Ulm, Robert Koch Strasse 8, 89081 Ulm, Germany. wolfram.karges@medizin.uni-ulm.de FAU - Karges, Beate AU - Karges B FAU - Ludwig, Leopold AU - Ludwig L FAU - Heidemann, Peter H AU - Heidemann PH LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Ireland TA - Cancer Lett JT - Cancer letters JID - 7600053 RN - 0 (MEN1 protein, human) RN - 0 (Neoplasm Proteins) RN - 0 (Proto-Oncogene Proteins) SB - IM MH - Astrocytoma/*genetics MH - Base Sequence MH - Brain Neoplasms/*genetics MH - Child MH - *Genes, Tumor Suppressor MH - Germ-Line Mutation MH - Humans MH - *Loss of Heterozygosity MH - Male MH - Multiple Endocrine Neoplasia Type 1/complications MH - Neoplasm Proteins/*genetics MH - *Proto-Oncogene Proteins EDAT- 2003/07/16 05:00 MHDA- 2003/09/26 05:00 CRDT- 2003/07/16 05:00 PHST- 2003/07/16 05:00 [pubmed] PHST- 2003/09/26 05:00 [medline] PHST- 2003/07/16 05:00 [entrez] AID - S0304383503001800 [pii] AID - 10.1016/s0304-3835(03)00180-0 [doi] PST - ppublish SO - Cancer Lett. 2003 Jun 30;196(1):23-7. doi: 10.1016/s0304-3835(03)00180-0.