scholarly journals Medullary thyroid carcinoma: Genetic screening and prophylactic thyroidectomies

2003 ◽  
Vol 50 (3) ◽  
pp. 121-124 ◽  
Author(s):  
Damijan Bergant ◽  
Marko Hocevar
Keyword(s):  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Thyroid Surgery ◽  
Genetic Screening ◽  
Germ Line ◽  
Point Mutations ◽  
C Cells ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid

Medullary thyroid carcinoma (MTC) occurs sporadically or is inherited as a characteristic component of MEN 2A, MEN 2B and familial MTC. Germ/line point mutations in RET proto/onkogene are responsible for tumor arise and inheritance. Genetic screening provides information of these RET mutations in family members even before pathologic changes of C-cells progress to MTC. The aim of our study was to identify carriers of RET gene mutations in our patients with MTC and their kindred. Surgical therapy was based on genetic testing results and clinical features. Prophylactic thyroid surgery was the subject of interest. From 1969-2002 105 patients with MTC (88 families), were treated and/or diagnosed at the institute of Oncology Ljubljana, Slovenia. Genetic testing was so performed in 58/88 MTC index patients (24 males (16 - 93y) and 34 females (23 -77y)) and their 50 kindred, aged 8 - 67y. Twentyfive/50 kindred were from affected families. Germline mutations of RET proto-onkogene were found in 12/58 (20, 6%) MTC index patients - 2 males (16 and 65 y) and 10 females (23-55y, median 36y) and in 14/25 kindred from 12 affected families - 5 males aged 18-57 years (median 21) and 9 females aged 12-54 years (median 41) but were absent in 11/25 kindred. Genetic screening results indicate thyroid surgery in all 14 kindred; also MTC was clinically suspected or diagnosed in 11/14 patients and 3/14 were candidates for prophylactic thyroidectomy. Total thyroidectomy with central neck dissection was the minimal surgical procedure. Prophylactic thyroidectomy based on genetic testing results allows earlier diagnosis and treatment of patients, even before pathologic changes of C-cells occur. Patient?s age and codon mutation influence the timing of surgery and even it?s extend.

scholarly journals Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic

2004 ◽  
Vol 183 (2) ◽  
pp. 257-265 ◽  
Author(s):  
Š Jindřichová ◽  
J Včelák ◽  
P Vlček ◽  
M Neradilová ◽  
J Němec ◽  
...  
Keyword(s):  
Czech Republic ◽  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Germ Line ◽  
Molecular Genetic ◽  
The Czech Republic ◽  
Medullary Thyroid ◽  
Germ Line Mutations ◽  
Exon 11

Medullary thyroid carcinoma (MTC) occurs as a sporadic form (75%) or as an autosomal dominant inherited familial disorder (25%) called familial MTC (FMTC) or as multiple endocrine neoplasia type 2 (MEN2) syndromes. Germ-line mutations in the rearranged during transfection (RET) proto-oncogene in exons 10, 11, 13, 14, 15 and 16 are known to be a cause of most of the familial forms. In this paper we report molecular genetic testing of 106 families with MTC (358 tested persons) from the Czech Republic in which we directly sequenced these six exons of the RET proto-oncogene. We detected germ-line mutations in 100% of MEN2B families (4/4 families), 90% of MEN2A families (9/10), 40% of FMTC families (4/10) and 7% of apparently sporadic MTC (6/82). Eleven different germ-line mutations were revealed. MEN2B was associated with mutation Met918 Thr in exon 16. In one MEN2B family beside this mutation the Tyr791 Phe was also found, which has not yet been reported. MEN2A was restricted to different mutations in exon 11 (codon 634). In FMTC and ‘sporadic’ MTC families the mutations in exons 10, 11, 13 and 14 were detected. The genotype/phenotype correlations are given. Genetic testing revealed germ-line mutations in 23 index patients, 24 family members and excluded them in 53 relatives.

scholarly journals A Review of the Significance in Measuring Preoperative and Postoperative Carcinoembryonic Antigen (CEA) Values in Patients with Medullary Thyroid Carcinoma (MTC)

Medicina ◽  
2021 ◽  
Vol 57 (6) ◽  
pp. 609
Author(s):  
Ioannis Passos ◽  
Elisavet Stefanidou ◽  
Soultana Meditskou-Eythymiadou ◽  
Maria Mironidou-Tzouveleki ◽  
Vasiliki Manaki ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Carcinoembryonic Antigen ◽  
Medullary Thyroid Carcinoma ◽  
Clinical Significance ◽  
Relevant Literature ◽  
Distant Metastases ◽  
Lymph Node Involvement ◽  
C Cells ◽  
Gastrointestinal Malignancies ◽  
Medullary Thyroid

Background and Objectives: Medullary thyroid carcinoma (MTC) accounts for 1–2% of all thyroid malignancies, and it originates from parafollicular “C” cells. Carcinoembryonic antigen (CEA) is a tumor marker, mainly for gastrointestinal malignancies. There are references in literature where elevated CEA levels may be the first finding in MTC. The aim of this study is to determine the importance of measuring preoperative and postoperative CEA values in patients with MTC and to define the clinical significance of the correlation between CEA and the origin of C cells. Materials and Methods: The existing and relevant literature was reviewed by searching for articles and specific keywords in the scientific databases of PubMedCentraland Google Scholar (till December 2020). Results: CEA has found its place, especially at the preoperative level, in the diagnostic approach of MTC. Preoperative CEA values >30 ng/mL indicate extra-thyroid disease, while CEA values >100 ng/mL are associated with lymph node involvement and distant metastases. The increase in CEA values preoperatively is associated with larger size of primary tumor, presence of lymph nodes, distant metastases and a poorer prognosis. The clinical significance of CEA values for the surgeon is the optimal planning of surgical treatment. In the recent literature, C cells seem to originate from the endoderm of the primitive anterior gut at the ultimobranchial bodies’ level. Conclusions: Although CEA is not a specific biomarker of the disease in MTC, itsmeasurement is useful in assessing the progression of the disease. The embryonic origin of C cells could explain the increased CEA values in MTC.

Expression of laminin-2 by normal and neoplastic rat C cells during the development of medullary thyroid carcinoma

1999 ◽  
Vol 434 (4) ◽  
pp. 325-332 ◽  
Author(s):  
Fatima Lekmine ◽  
Hélène Feracci ◽  
Gérard Milhaud ◽  
Françoise Treilhou-Lahille ◽  
N. Jeanne
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
C Cells ◽  
Medullary Thyroid

Early, Prophylactic Thyroidectomy in Hereditary Medullary Thyroid Carcinoma

2015 ◽  
Vol 38 (5) ◽  
pp. 508-513 ◽  
Author(s):  
Maria R. Pelizzo ◽  
Francesca Torresan ◽  
Isabella M. Boschin ◽  
Davide Nacamulli ◽  
Gianmaria Pennelli ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid ◽  
Hereditary Medullary Thyroid Carcinoma

Medullary thyroid carcinoma

2011 ◽  
pp. 625-630
Author(s):  
Friedhelm Raue ◽  
Karin Frank-Raue
Keyword(s):  
Sex Ratio ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hereditary Disease ◽  
C Cells ◽  
Biochemical Screening ◽  
Medullary Thyroid ◽  
Histological Features ◽  
Sporadic Disease ◽  
Male To Female

Medullary thyroid carcinoma (MTC) is a rare calcitonin-secreting tumour of the parafollicular or C cells of the thyroid. As the C cells originate from the embryonic neural crest, MTC often have the clinical and histological features of neuroendocrine tumours. They account for 8–12% of all thyroid carcinomas and occur in both sporadic and hereditary forms (1). The majority of patients have sporadic MTC (70%), while 30% have hereditary MTC. The sex ratio in sporadic MTC is 1:1.3 (male to female), while both sexes are nearly equally affected in the familial variety (2). The highest incidence of sporadic disease occurs in the fifth decade of life, while hereditary disease can be diagnosed earlier, depending on the possibility of genetic and biochemical screening.

Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma

2018 ◽  
Vol 25 (5) ◽  
pp. 1395-1402 ◽  
Author(s):  
Minerva A. Romero Arenas ◽  
Thereasa A. Rich ◽  
Samuel M. Hyde ◽  
Naifa L. Busaidy ◽  
Gilbert J. Cote ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Medullary Thyroid

Genetic Testing and Early Thyroidectomy for Inherited Medullary Thyroid Carcinoma

1996 ◽  
Vol 28 (5) ◽  
pp. 401-406 ◽  
Author(s):  
Terry C. Lairmore ◽  
Margaret M. Frisella ◽  
Samuel A. Wells
Keyword(s):  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Medullary Thyroid

Application of genetic screening in families with hereditary medullary thyroid carcinoma*

2009 ◽  
Vol 104 (S 04) ◽  
pp. 108-110 ◽  
Author(s):  
K. Frank-Raue ◽  
W. Höppner ◽  
H. Buhr ◽  
Ch. Herfarth ◽  
R. Ziegler ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Genetic Screening ◽  
Medullary Thyroid ◽  
Hereditary Medullary Thyroid Carcinoma
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