title: [Clinical and genetic profile of patients with medullary thyroid cancer treated in the Cancer Centre--Institute of Oncology in Warsaw].
abstract: BACKGROUND
  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.
  
  
  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.
authors.affiliation: Department of Nuclear Medicine and Oncological Endocrinology, Cancer Centre, Maria Sklodowska-Curie Memorial Institute of Oncology, Warsaw. zmnukl@coi.waw.pl
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Czetwertyńska
authors.forename: Izabela
authors.initials: I
authors.lastname: Kozłowicz-Gudzińska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Stachlewska-Nasfeter
authors.forename: M
authors.initials: M
authors.lastname: Sromek
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Skasko
authors.forename: Zygmunt
authors.initials: Z
authors.lastname: Paszko
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics; D011044:Poland; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D012189:Retrospective Studies; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret