PMID- 10366412 OWN - NLM STAT- MEDLINE DCOM- 19990728 LR - 20190905 IS - 0804-4643 (Print) IS - 0804-4643 (Linking) VI - 140 IP - 6 DP - 1999 Jun TI - Somatic MEN1 gene mutation does not contribute significantly to sporadic pituitary tumorigenesis. PG - 573-6 AB - Pituitary adenomas are a common manifestation of multiple endocrine neoplasia type 1 (MEN1) but most of them occur sporadically. There are only a few well defined genetic abnormalities known to occur in these sporadic tumours. The MEN1 gene located on 11q13 has recently been cloned and allelic deletion and mutation analysis studies have implicated the MEN1 gene in a significant fraction of the sporadic counterparts of typical MEN1 neoplasms (parathyroid tumours, insulinomas and gastrinomas). To determine if MEN1 gene inactivation is also involved in the development of sporadic pituitary adenomas, allelic deletions of chromosome 11q13 and MEN1 gene mutations and polymorphisms were assessed in 35 sporadic tumours of the anterior pituitary (9 prolactin-secreting, 8 GH-secreting, 3 TSH-secreting, 2 TSH/GH-secreting, 4 Cushing, 9 silent). Thirty-one tumours were found to be heterozygous for at least one MEN1 intragenic polymorphism (25 cases) or for a flanking gene polymorphism (6 cases). The remaining tumours were not informative. No mutations were found in any tumour except in one prolactinoma which was homozygous or hemizygous for a mutation (1-117 C-->T) in a region close to the promoter. Unfortunately, blood or normal tissue was not available in this case. Our data show that somatic MEN1 mutations do not contribute significantly to tumorigenesis of sporadic pituitary adenomas and suggest that mutation of other genes are likely to contribute to the pathogenesis of these tumours. FAU - Poncin, J AU - Poncin J AD - Department of Medical Genetics, University Hospital, University of Liege, 4000 Liege, Belgium. FAU - Stevenaert, A AU - Stevenaert A FAU - Beckers, A AU - Beckers A LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Eur J Endocrinol JT - European journal of endocrinology JID - 9423848 SB - IM MH - Adenoma/*etiology/genetics MH - Cryopreservation MH - Genetic Testing MH - Humans MH - Loss of Heterozygosity MH - Multiple Endocrine Neoplasia Type 1/*genetics MH - *Mutation MH - Pituitary Gland, Anterior MH - Pituitary Neoplasms/*etiology/genetics MH - Polymorphism, Genetic EDAT- 1999/06/12 00:00 MHDA- 1999/06/12 00:01 CRDT- 1999/06/12 00:00 PHST- 1999/06/12 00:00 [pubmed] PHST- 1999/06/12 00:01 [medline] PHST- 1999/06/12 00:00 [entrez] AID - 1400573 [pii] AID - 10.1530/eje.0.1400573 [doi] PST - ppublish SO - Eur J Endocrinol. 1999 Jun;140(6):573-6. doi: 10.1530/eje.0.1400573.