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Clinical and genetic profile of patients with medullary thyroid cancer treated in the Cancer Centre - Institute of Oncology in Warsaw
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Abstract
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
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.
Keywords
medullary thyroid carcinoma; RET gene mutation; multiple endocrine neoplasia type 2 (MEN 2); pheochromocytoma
About this articleTitle
Clinical and genetic profile of patients with medullary thyroid cancer treated in the Cancer Centre - Institute of Oncology in Warsaw
Journal
Issue
Article type
Original paper
Pages
415-419
Published online
2006-07-07
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541
Article views/downloads
1135
Bibliographic record
Endokrynol Pol 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
