Mutations of the MEN1 gene do not play an important role in the pathogenesis of sporadic insulinomas. Therefore genetic screening is not cost effective in sporadic insulinoma patients without other indicators of MEN 1. Patients with primary HPT at a younger age and/or multiple gland disease should be screened for MEN1 gene mutations.
Since the pathogenesis of endocrine ophthalmopathy is unclear, there has been little agreement on the treatment of the disease. The influence of thyroid surgery on endocrine ophthalmopathy is controversial. To evaluate the effect of thyroid surgery on the course of the disease, we developed a special ophthalmopathy index. As a standard procedure, subtotal thyroidectomy with thyroid remnants of 3-5 g was performed. A total of 176 patients with Graves' disease underwent the above treatment between 1986 and 1988. In 78 patients suffering from concomitant endocrine ophthalmopathy, ocular status was examined prior to operation and postoperatively. The history of endocrine ophthalmopathy had been present less than 2 years preoperatively in 74% of the patients. Follow-up ranged from 6 to 36 months. Postoperatively, 54 (69%) patients showed a marked improvement of their eye symptoms. In 18 (23%), there was no change and, in 6 (8%) patients, the severity of the eye symptoms increased after the operation. As a result of these data, a cautious and preliminary conclusion may be justified--that subtotal thyroidectomy may have a positive effect on endocrine ophthalmopathy.
H ereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominantly inherited syndrome predisposing to the early development of cancers of the colon, rectum, endometrium, small bowel, and urinary tract and accounts for ∼5% of all colon cancer cases.1 There are at least five genes involved in this cancer predisposition and they include MLH1, 2 MSH2, 3 MSH6, 4 PMS2, and PMS1.5 Currently, more than 300 different mutations have been described in these genes which account for approximately 500 HNPCC kindreds from different parts of the world.6 MLH1 and MSH2 genes show abnormalities in more than 90% of HNPCC families with identified germline mutations 7 (http://www.nfdht.nl). The majority of reported MLH1 and MSH2 mutations are dispersed throughout the 35 exons of these two genes. However, some changes are recurrent and are described as founder mutations in particular populations. [8][9][10][11] In order to develop efficient DNA testing, it is important to describe the nature and frequency of mutations that are characteristic of particular ethnic groups. The MSH2 and MLH1 mutation spectrum has not been investigated in the eastern European region and therefore there is no knowledge about any recurrent mutations which may significantly aid in the mutation screening procedures for this region. Here, we describe the results of DNA/RNA based mutation sequencing of both the MSH2 and MLH1 genes in a series of HNPCC families from Poland (89 cases) and the Baltic States (12 cases). MATERIAL AND METHODS PatientsA total of 101 unrelated patients affected by colorectal cancer or an HNPCC associated cancer (endometrium, small bowel, urinary tract) were from 17 families which fulfilled the Amsterdam II criteria 12 and from 84 families matching our modified criteria of suspected HNPCC, one colorectal cancer patient with a first degree relative affected by an HNPCC associated cancer, one of whom was diagnosed under the age of 50 years. 13 The clinical diagnosis of HNPCC was established or verified at the Hereditary Cancer Centre, Pomeranian Academy of Medicine, Szczecin, Poland. Patients used for this study were ascertained from the following regions: Bydgoszcz (3), Gdańsk (3), Kielce (14), Kraków (3), Legnica (1), Lublin (2), Lódz (1), Olsztyn (13), Poznań (7), Riga (3), Szczecin (33), Tartu (3), Wrocław (5), Vilnius (6), Zielona Góra (4). DNA isolationPeripheral blood samples were collected from the patients after obtaining informed consent. DNA was extracted directly from leucocytes by the classical phenol purification method or as described previously.14 DNA sequencing All exons and exon-intron junctions of MLH1 and MSH2 were amplified using the same protocols as described previously 15 with the same primer sequences as described by Wijnen et al 16 17 for DGGE but without the M13 and GC clamp sequences at the 5′ end. Dye terminator cycle sequencing reactions were performed using the ABI PRISM Dye-terminator Cycle Sequencing Ready Reaction kit (Perkin Elmer) according to the manufacturer's recommended p...
Children and adolescents with thyroid disorders are predominantly treated by pediatricians and pediatric endocrinologists. Surgery for thyroid disorders still represents the third frequent operation in adults in Germany, but is seldomly indicated in children. Thus children and adolescents make up for 1.3% of all our patients and of these 89 patients only 21 (23.6%) suffered from Graves disease. Nevertheless surgery for Graves disease in children and adolescence is recommended because medical therapy has proven a high rate of recurrences in children and because radioiodine is only reluctantly applied to children, at least in Germany.
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