Prophylactic thyroidectomy: effective against medullary thyroid carcinoma in children

2005 ◽  
Vol 2 (12) ◽  
pp. 601-602
Author(s):  
Alexandra King
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Prophylactic Thyroidectomy ◽  
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

Prophylactic thyroidectomy for medullary thyroid carcinoma in gene carriers of MEN2 syndrome

1998 ◽  
Vol 33 (6) ◽  
pp. 846-848 ◽  
Author(s):  
M Lallier ◽  
D St-Vil ◽  
M Giroux ◽  
C Hout ◽  
L Gaboury ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid ◽  
Gene Carriers

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.

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 RET Proto-Oncogene Mutational Analysis in Patients With Medullary Thyroid Carcinoma

2021 ◽  
Author(s):  
Elia Damavandi ◽  
Maliheh Javadi-Arjmand ◽  
Mohammad-Reza Mohajeri-Tehrani ◽  
Bagher Larijani ◽  
Majid Kabuli ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Mutational Analysis ◽  
Hot Spot ◽  
Mutation Screening ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid ◽  
Ret Mutation ◽  
First Degree Relatives ◽  
Familial Form

Abstract Background: The aim of this study was to identify germline mutation of the RET (rearranged during transfection) gene in patients with Medullary Thyroid Carcinoma (MTC) and their first-degree relatives to find pre-symptomatic carriers for possible prophylactic thyroidectomy.Methods and results: We examined all six hot spot exons (exons 10, 11, 13, and 14-16) of the RET gene by PCR and bidirectional sanger sequencing in 45 Iranian patients with MTC (either sporadic or familial form) from 7 unrelated kindreds and 38 apparently sporadic cases. First-degree relatives of RET positive cases were also genotyped for index mutation. Moreover, pre-symptomatic carriers were referred to the endocrinologist for further clinical management and prophylactic thyroidectomy if needed. Overall, the genetic status of all of the participants was determined by RET mutation screening, including 61 affected individuals, 22 pre-symptomatic carriers and 29 genetically healthy subjects. In 37.5% (17 of 45) of the MTC referral index patients, seven distinct RET germline mutations were found, including p.C634R (35.3%), p.M918T (17.6%), p.C634Y (11.8%), p.C634F (5.9%), p.C611Y (5.9%), p.C618R (5.9%), p.C630R (5.9%), p.L790F (5.9%) and an uncertain variant p.V648I (5.9%). Conclusion: RET mutation detection is a promising/golden screening test and provides an accurate pre-symptomatic diagnostic test for at-risk carriers (the siblings and offspring of the patients) to consider prophylactic thyroidectomy. Thus, mutation screening of the RET hot spot exons could be suggested for any MTC patient to find pre-symptomatic RET carriers in their relatives.

scholarly journals RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Elia Damavandi ◽  
Fatemeh Vand-Rajabpour ◽  
Maliheh Javadi-Arjmand ◽  
Mohammad-Reza Mohajeri Tehrani ◽  
Bagher Larijani ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Mutation Screening ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid ◽  
Ret Mutation ◽  
First Degree Relatives ◽  
Familial Form ◽  
New Variant ◽  
Iranian Patients

Background. The aim of this study was to identify germline mutation of the RET (rearranged during transfection) gene in patients with medullary thyroid carcinoma (MTC) and their first-degree relatives to find presymptomatic carriers for possible prophylactic thyroidectomy. Methods/Patients. We examined all six hot spot exons (exons 10, 11, 13, and 14–16) of the RET gene by PCR and bidirectional Sanger sequencing in 45 Iranian patients with MTC (either sporadic or familial form) from 7 unrelated kindred and 38 apparently sporadic cases. First-degree relatives of RET positive cases were also genotyped for index mutation. Moreover, presymptomatic carriers were referred to the endocrinologist for further clinical management and prophylactic thyroidectomy if needed. Results. Overall, the genetic status of all of the participants was determined by RET mutation screening, including 61 affected individuals, 22 presymptomatic carriers, and 29 genetically healthy subjects. In 37.5% (17 of 45) of the MTC referral index patients, 8 distinct RET germline mutations were found, including p.C634R (35.3%), p.M918T (17.6%), p.C634Y (11.8%), p.C634F (5.9%), p.C611Y (5.9%), p.C618R (5.9%), p.C630R (5.9%), p.L790F (5.9%), and one uncertain variant p.V648I (5.9%). Also, we found a novel variant p.H648R in one of our apparently sporadic patients. Conclusion. RET mutation detection is a promising/golden screening test and provides an accurate presymptomatic diagnostic test for at-risk carriers (the siblings and offspring of the patients) to consider prophylactic thyroidectomy. Thus, according to the ATA recommendations, the screening of the RET proto-oncogene is indicated for patients with MTC.

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