Az l-es típusú multiplex endokrin neoplasia klinikai tünetei, diagnózisa és kezelése a genetikai vizsgálatok hazai tapasztalatai

Katalin Balogh, László Hunyady, Attila Patócs, Zsuzsanna Valkusz, Rita Bertalan, Péter Gergics, Judit Majnik, Judit Toke, Miklós Tóth, Nikolette Szucs, Edit Gláz, László Futo, János Horányi, Károly Rácz, Zsolt Tulassay

Research output: Review article

2 Citations (Scopus)

Abstract

Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreenig of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing). Using this method, the authors identified disease-causing MEN1 gene mutations in 9 probands (small deletions in 2 cases, insertion in 2 cases, nonsense mutations in 2 cases and missense mutations in 3 cases). Of the 9 mutations, 4 proved to be novel mutation not reported in the literature. Family screening indicated de novo mutations in 2 probands. In addition to mutations, several sequence polymorphisms were also detected. The authors conclude that one of the major advantages of genetic screening in families with MEN1 syndrome was the identification of family members carrying the mutation who should be regularly screened for disease manifestations and those not carrying the mutation in whom clinical screening is unnecessary. Also, genetic screening may be useful in cases when MEN1 syndrome is suspected, but the clinical manifestations do not fully establish the diagnosis of MEN1 syndrome.

Translated title of the contributionClinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients
Original languageHungarian
Pages (from-to)2191-2197
Number of pages7
JournalOrvosi hetilap
Volume146
Issue number43
Publication statusPublished - dec. 1 2005

Keywords

  • Family screening
  • Genetic screening
  • MEN1
  • Multiple endocrine neoplasia type1
  • Mutation analysis
  • Temporal temperature gradient gel electrophoresis

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Balogh, K., Hunyady, L., Patócs, A., Valkusz, Z., Bertalan, R., Gergics, P., Majnik, J., Toke, J., Tóth, M., Szucs, N., Gláz, E., Futo, L., Horányi, J., Rácz, K., & Tulassay, Z. (2005). Az l-es típusú multiplex endokrin neoplasia klinikai tünetei, diagnózisa és kezelése a genetikai vizsgálatok hazai tapasztalatai. Orvosi hetilap, 146(43), 2191-2197.