[Clinical and genetic profile of patients with medullary thyroid cancer treated in the Cancer Centre--Institute of Oncology in Warsaw]. / Analiza kliniczna i genetyczna chorych na raka rdzeniastego tarczycy w Centrum Onkologii--Instytucie w Warszawie.

INTRODUCTION: The aim of this study was to analyse the distribution and frequency of mutations and their correlations with clinical phenotypes of patients with MTC, to reveal the differences between sporadic and familial type of MTC, and to describe the phenotypes of patients. MATERIALS AND METHODS: 212 patients with medullary thyroid cancer (MTC) were treated in Cancer Centre in Warsaw between 1997 and 2005. In most patients, DNA isolated from peripheral blood leukocytes was tested for RET gene mutations by sequencing and accordingly MTC form was assessed. Genetic testing was performed in the relatives of patients with familial MTC in order to distinguish asymptomatic mutation carriers from noncarriers. RESULTS: RET gene mutations were identified in 46 patients (22%). The others were found noncarriers and sporadic MTC was diagnosed. MEN 2A/FMTC syndrome (multiple endocrine neoplasia type 2A/ familial type of MTC) was diagnosed in 44 patients, MEN 2B syndrome (multiple endocrine neoplasia type 2B) in 2 patients. In patients with sporadic and familial MTC, age at diagnosis and multifocal occurrence was analysed, and the results were found to be in accordance with those of other research centres. However, the distribution and frequency of mutations, as well as some clinical data, such as the frequency of pheochromocytoma occurrence as the first manifestation of MEN syndrome, differed from the published data, and further studies are necessary to reveal the reasons of these differences. CONCLUSIONS: DNA testing for RET gene mutations is reliable as a diagnostic tool and therefore it should be performed for screening of all patients with MTC or other diseases of MEN syndrome.

SPECT as a diagnostic test in the investigation of dementia.

Single photon emission tomography (SPECT) permits the assessment of the decrease of regional cerebral blood flow (rCBF). The aim of this study was to assess the relationship between the different types of dementia (Alzheimer's disease (AD), vascular dementia (VaD) and frontotemporal dementia (FTD)) and the rCBF in the SPECT examination. In patients with AD, the SPECT examination showed hypoperfusion in temporoparietal regions, contrary to patients with frontotemporal dementia, where hypoperfusion was limited to the frontal area, and compared to patients with VaD, where "patchy" rCBF changes were observed in different regions. In mild cases of AD, perfusion deficits were observed in the frontal regions equal to those in VaD. The study shows that the SPECT examination may be useful in distinguishing between AD, VaD, and FTD; however, for proper diagnosis in the early stages of AD, additional factors must be taken into consideration.