PMID- 11151652 OWN - NLM STAT- MEDLINE DCOM- 20010329 LR - 20171116 IS - 0028-2162 (Print) IS - 0028-2162 (Linking) VI - 144 IP - 51 DP - 2000 Dec 16 TI - [Multiple endocrine neoplasia type 1: recent developments and guidelines for DNA diagnosis and periodic clinical monitoring]. PG - 2445-9 AB - Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominantly inherited disorder, characterised by the occurrence of multiple tumours, particularly in the parathyroid glands, the pancreatic islets, the pituitary gland, the adrenal glands, as well as neuroendocrine carcinoid tumours. Since the identification of the responsible gene in 1997, the diagnosis MEN-1 can be assessed easily, and even presymptomatically, by DNA analysis. An early diagnosis is of importance because through periodic clinical monitoring of (putative) MEN1 gene germline mutation carriers, tumour development can be detected and treated at an early stage. Eligible for DNA analysis are MEN-1 patients and their family members, as well as patients with seemingly sporadic MEN-1 related tumours in whom on clinical grounds carriership of a MEN1 gene germline mutation is suspected. Eligible for periodic clinical monitoring are putative and confirmed carriers of a MEN1 germline mutation from the age of 5. FAU - Dreijerink, K M AU - Dreijerink KM AD - Divisie Inwendige Geneeskunde en Dermatologie, afd. Endocrinologie, Universitair Medisch Centrum, Postbus 85.500, 3508 GA Utrecht. FAU - Roijers, J F AU - Roijers JF FAU - van der Luijt, R B AU - van der Luijt RB FAU - Hoppener, J W AU - Hoppener JW FAU - Lips, C J AU - Lips CJ LA - dut PT - Comment PT - Journal Article PT - Review TT - Multipele endocriene neoplasie type 1: recente ontwikkelingen en richtlijnen voor DNA-diagnostiek en periodiek klinisch onderzoek. PL - Netherlands TA - Ned Tijdschr Geneeskd JT - Nederlands tijdschrift voor geneeskunde JID - 0400770 SB - IM CON - Ned Tijdschr Geneeskd. 2000 Dec 16;144(51):2437-42. PMID: 11151650 MH - Adult MH - Child MH - DNA Mutational Analysis/*methods MH - Diagnosis, Differential MH - Genetic Carrier Screening/methods MH - Genetic Testing/methods MH - Germ-Line Mutation/*genetics MH - Humans MH - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics MH - Neoplasms, Multiple Primary/*diagnosis/genetics MH - Netherlands MH - Patient Selection MH - Practice Guidelines as Topic RF - 22 EDAT- 2001/01/11 11:00 MHDA- 2001/04/03 10:01 CRDT- 2001/01/11 11:00 PHST- 2001/01/11 11:00 [pubmed] PHST- 2001/04/03 10:01 [medline] PHST- 2001/01/11 11:00 [entrez] PST - ppublish SO - Ned Tijdschr Geneeskd. 2000 Dec 16;144(51):2445-9.