Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma

Head & Neck ◽  
2011 ◽  
Vol 34 (4) ◽  
pp. 493-498 ◽  
Author(s):  
Hélène Bihan ◽  
Eric Baudin ◽  
Taly Meas ◽  
Sophie Leboulleux ◽  
Abir Al Ghuzlan ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma

scholarly journals Clinical case of familial medullary thyroid carcinoma

2021 ◽  
pp. 76-81
Author(s):  
V. Palamarchuk ◽  
V. V. Voitenko ◽  
N. Shapoval ◽  
T. Ogryzko
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Heterozygous State ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma ◽  
Timely Diagnosis

Medullary thyroid cancer (MTC) accounts for 5—10 % of all thyroid cancers. Most cases are sporadic (75 %), but the proportion of patients with MTC and familial medullary thyroid carcinoma (FMTC) is the highest among any hereditary cancer syndromes (appro­ximately 25 %), and this risk should be considered when evaluating a patient with MTC. In this clinical case study, case of FMTC has been elucidated. Diagnostic criteria of the disease, molecular-genetic aspects, treatment tactics and post-operative observation findings have been presented. The case study illustrates, the efficacy of genomic profiling for the identification of molecular genetic drivers of the disease and its role in ensuring proper and timely diagnosis and treatment of familial form of MTC. When planning prophylactic thyroidectomy, it is recommended to focus on the stratification of the level of RET gene mutation and the timing of prophylactic thyroidectomy as proposed by the American Thyroid Association. The use of molecular genetic investigations in clinical practice for diagnosing MTC makes it possible to objectify the genetic line of the disease in a particular biological family. The patient was found to have a pathogenic germline missense mutation c.2304 G> T (p.E768D, CM020961) in a heterozygous state, which refers to moderate risk of aggressiveness of MTC. In addition, molecular genetic test was performed for the patient's biological child, a 4-year-old girl. Pathogenic mutation was found in the CHEK2 gene, c.47OT> C (p.Ile 157 Thr) in a heterozygous state. These mutations increase the risk of developing breast cancer by 2-3 times, and by 4-5 times in the presence of family history of cancer. The presence of this mutation increases the risk of developing other types of cancers such as stomach, breast, intestinal, prostate and thyroid cancers. Timely diagnosis of FMTC allows to formulate adequate treatment strategy at the preclinical stage of the disease and can significantly improve the quality and duration of life.

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.

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
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