open access

Vol 57, No 4 (2006)
Original papers
Published online: 2006-07-07
Submitted: 2013-02-15
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Clinical and genetic profile of patients with medullary thyroid cancer treated in the Cancer Centre - Institute of Oncology in Warsaw

Małgorzata Czetwertyńska, Izabela Kozłowicz-Gudzińska, Elżbieta Stachlewska-Nasfeter, M. Sromek, Elżbieta Skasko, Zygmunt Paszko
Endokrynologia Polska 2006;57(4):415-419.

open access

Vol 57, No 4 (2006)
Original papers
Published online: 2006-07-07
Submitted: 2013-02-15

Abstract

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.

Abstract

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.
Get Citation

Keywords

medullary thyroid carcinoma; RET gene mutation; multiple endocrine neoplasia type 2 (MEN 2); pheochromocytoma

About this article
Title

Clinical and genetic profile of patients with medullary thyroid cancer treated in the Cancer Centre - Institute of Oncology in Warsaw

Journal

Endokrynologia Polska

Issue

Vol 57, No 4 (2006)

Pages

415-419

Published online

2006-07-07

Bibliographic record

Endokrynologia Polska 2006;57(4):415-419.

Keywords

medullary thyroid carcinoma
RET gene mutation
multiple endocrine neoplasia type 2 (MEN 2)
pheochromocytoma

Authors

Małgorzata Czetwertyńska
Izabela Kozłowicz-Gudzińska
Elżbieta Stachlewska-Nasfeter
M. Sromek
Elżbieta Skasko
Zygmunt Paszko

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