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

New presentation of familial medullary thyroid carcinoma in 87-year-old patient with high-riskRETproto-oncogene codon 620 mutation

2008 ◽  
Vol 123 (7) ◽  
pp. 796-800 ◽  
Author(s):  
M K J Jaggard ◽  
C MacRae ◽  
S Ifeacho ◽  
S Robinson ◽  
N S Tolley
Keyword(s):  
High Risk ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Early Development ◽  
Prophylactic Thyroidectomy ◽  
Current Recommendation ◽  
Clinical Prognosis ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma ◽  
Hereditary Medullary Thyroid Carcinoma

AbstractObjective:We report a case of familial medullary thyroid carcinoma in an 87-year-old woman, despite the patient having a high-risk codon 620 mutation.Method:Medline and PubMed were searched for cases and literature reviews relating to the following keywords: ‘codon 620’, ‘medullary thyroid carcinoma’, ‘multiple endocrine neoplasia’ and ‘RET proto-oncogene’.Results:We report the case of an 87-year-old woman who presented with a goitre, later identified as medullary thyroid carcinoma. Genetic analysis revealed aRETproto-oncogene codon 620 mutation. Genetic testing has revolutionised the management of medullary thyroid carcinoma. The genetic basis of hereditary medullary thyroid carcinoma lies with theRETproto-oncogene. Several disease-causing mutations of this gene have been identified and their clinical prognosis described. The penetrance of these mutations is high; as such, carriers progress to develop medullary thyroid carcinoma at a young age. Mutations at the codon 620 position are classified as high-risk for early development of medullary thyroid carcinoma; thus, the current recommendation is for prophylactic thyroidectomy at five years of age.Conclusions:In this case, the progress of hereditary medullary thyroid carcinoma was unique, considering the late presentation of medullary thyroid carcinoma despite the presence of the high-riskRETproto-oncogene codon 620 mutation. The authors wish to highlight the importance of this case, as it may present a counter-argument to the current recommendations for early, prophylactic thyroidectomy in codon 620 mutation carriers in order to prevent early development of medullary thyroid carcinoma.

Evaluation of treatment approaches to the sporadic and hereditary medullary thyroid carcinoma in Turkey

2013 ◽  
Author(s):  
Bagdagul Yuksel ◽  
Berna Imge Aydogan ◽  
Alptekin Gursoy ◽  
Mazhar Muslum Tuna ◽  
Mehtap Vardar Basaran ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Treatment Approaches ◽  
Medullary Thyroid ◽  
Hereditary Medullary Thyroid Carcinoma

Polymorphisms of cdkn1b gene may influence hereditary medullary thyroid carcinoma aggressiveness

2015 ◽  
Author(s):  
Raquel Bueno Barbieri ◽  
Lucas Leite Cunha ◽  
Natassia Elena Bufalo ◽  
Danilo Villagelin ◽  
Ligia Vera Assumpcao ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Hereditary Medullary Thyroid Carcinoma ◽  
Cdkn1b Gene

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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