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Multiple endocrine neoplasia type 1 (MEN1) in Austria.
Wien Klin Wochenschr. 2002 Apr 15; 114(7):252-7.WK

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is a rare cancer predisposition syndrome. It results from the autosomal dominant inheritance of inactivating germ-line mutations of the MEN1 tumor suppressor gene. Mutation carriers are prone to develop tumors, preferentially, of the parathyroid and anterior pituitary glands as well as the enteropancreatic endocrine tissues. Because such tumors also occur without the MEN1 context, we have set up a molecular genetic screening program in Austria to discriminate between heritable and non-heritable tumor forms. Following the recognition of a MEN1-specific germ-line mutation in a tumor patient, we extend the screening to all first-degree relatives. To date, we have studied 42 individuals by sequencing the coding exons 2 to 10 of the MEN1 gene. A germ-line mutation was discovered in four of seven families suspected, clinically, to have MEN1, and in 3 of 22 (13.6%) patients with a presumed sporadic endocrine tumor. The respective mutations were also detected in three first-degree relatives of whom only one 6-year-old boy was asymptomatic at the time of investigation. The possibility to clearly discriminate between genetically predisposed and non-predisposed individuals has a significant impact on the diagnosis and clinical management of both patients and their relatives. Both symptomatic and asymptomatic mutation carriers can be closely monitored, thereby allowing early recognition and treatment of developing tumors. Non-affected relatives, on the other hand, do not require further controls. Finally, this approach also provides the information necessary for reliable genetic counseling.

Authors+Show Affiliations

Children's Cancer Research Institute, St Anna Children's Hospital, Vienna, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12089860

Citation

Weinhäusel, Andreas, et al. "Multiple Endocrine Neoplasia Type 1 (MEN1) in Austria." Wiener Klinische Wochenschrift, vol. 114, no. 7, 2002, pp. 252-7.
Weinhäusel A, Kaserer K, Vierhapper H, et al. Multiple endocrine neoplasia type 1 (MEN1) in Austria. Wien Klin Wochenschr. 2002;114(7):252-7.
Weinhäusel, A., Kaserer, K., Vierhapper, H., Niederle, B., & Haas, O. A. (2002). Multiple endocrine neoplasia type 1 (MEN1) in Austria. Wiener Klinische Wochenschrift, 114(7), 252-7.
Weinhäusel A, et al. Multiple Endocrine Neoplasia Type 1 (MEN1) in Austria. Wien Klin Wochenschr. 2002 Apr 15;114(7):252-7. PubMed PMID: 12089860.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple endocrine neoplasia type 1 (MEN1) in Austria. AU - Weinhäusel,Andreas, AU - Kaserer,Klaus, AU - Vierhapper,Heinrich, AU - Niederle,Bruno, AU - Haas,Oskar A, AU - ,, PY - 2002/7/2/pubmed PY - 2002/10/3/medline PY - 2002/7/2/entrez SP - 252 EP - 7 JF - Wiener klinische Wochenschrift JO - Wien Klin Wochenschr VL - 114 IS - 7 N2 - Multiple endocrine neoplasia type 1 (MEN1) is a rare cancer predisposition syndrome. It results from the autosomal dominant inheritance of inactivating germ-line mutations of the MEN1 tumor suppressor gene. Mutation carriers are prone to develop tumors, preferentially, of the parathyroid and anterior pituitary glands as well as the enteropancreatic endocrine tissues. Because such tumors also occur without the MEN1 context, we have set up a molecular genetic screening program in Austria to discriminate between heritable and non-heritable tumor forms. Following the recognition of a MEN1-specific germ-line mutation in a tumor patient, we extend the screening to all first-degree relatives. To date, we have studied 42 individuals by sequencing the coding exons 2 to 10 of the MEN1 gene. A germ-line mutation was discovered in four of seven families suspected, clinically, to have MEN1, and in 3 of 22 (13.6%) patients with a presumed sporadic endocrine tumor. The respective mutations were also detected in three first-degree relatives of whom only one 6-year-old boy was asymptomatic at the time of investigation. The possibility to clearly discriminate between genetically predisposed and non-predisposed individuals has a significant impact on the diagnosis and clinical management of both patients and their relatives. Both symptomatic and asymptomatic mutation carriers can be closely monitored, thereby allowing early recognition and treatment of developing tumors. Non-affected relatives, on the other hand, do not require further controls. Finally, this approach also provides the information necessary for reliable genetic counseling. SN - 0043-5325 UR - https://www.unboundmedicine.com/medline/citation/12089860/Multiple_endocrine_neoplasia_type_1__MEN1__in_Austria_ L2 - http://www.diseaseinfosearch.org/result/4954 DB - PRIME DP - Unbound Medicine ER -