Multiple endocrine neoplasia syndroms. Type 1

Linas Juodelė, Elona Juozaitytė¹, Algimantas Žindžius, Juozas Pundzius

Clinic of Surgery, ¹Clinic of Oncology, Kaunas University of Medicine Hospital, Lithuania

Key words: multiple endocrine neoplasia type 1, MEN 1 gene, menin.

Summary. Multiple endocrine neoplasia (MEN) type 1 syndrome or Wermer syndrome is a classical malignant neoplasia syndrome, inherited in the autosomal dominant pattern, when hyperplastic and/or neoplastic injury develops synchronously or metachronously in the cells of the parathyroid gland, pancreas islets, hypophysis, and rarer in other neuroendocrine organs. The syndrome develops when germinative MEN 1 – neoplasia suppression gene inactivation mutations occurs. More than 95 percent of patients have this MEN 1 gene mutation, when the penetration of mutation is almost 100 percent. An early stage of this syndrome is hyperfunction in organs, with the syndromes of hormone excess, later benign and/or malign neoplasia develops, this mostly determines the prognosis for the patient. The risk of this syndrome developing should be estimated for all the patients diagnosed with endocrine organ hyperplasia, which determines hyperfunction, or endocrine organs neoplasia. For patients with multiple endocrine neoplasia type 1 syndrome, endocrine neoplasia develops earlier than in sporadic cases; multifocality is typical for them. Multifocality of neoplasia, typical combinations of injuries and anamnesis of the family helps to diagnose the syndrome. Diagnosis is confirmed through genetical analysis, which is also important in determining the inheritors of mutations, potential patients. After genetically diagnosing multiple endocrine neoplasia type 1 syndrome, it is not enough to analyze and look after patients with malignant neoplasia, or to make early diagnosis on pre-neoplasic disease and neoplasia, or to apply means of prevention and start well-timed treatment, but also to diagnose this syndrome for the patient’s relatives, and to determine their risk of getting cancer. This opens new possibilities in early diagnostics and prevention of malignant neoplasia. The main purpose of this literature review is to introduce medical-practitioners to the newest theories of type 1 multiple endocrine neoplasia syndrome pathogenesis, clinical peculiarities, methods of diagnostics and treatment.

Correspondence to L. Juodelė, Clinic of Surgery, Kaunas University of Medicine Hospital, Eivenių 2, 50010 Kaunas, Lithuania. E-mail: juodele@hotmail.com

Received 10 December 2003, accepted 11 February 2004