RET Mutation Screening in MEN2 Patients and Discovery of a Novel Mutation in a Sporadic Medullary Thyroid Carcinoma

Thyroid ◽  
1996 ◽  
Vol 6 (2) ◽  
pp. 115-121 ◽  
Author(s):  
SISSY M. JHIANG ◽  
LINDA FITHIAN ◽  
CHRISTOPHER M. WEGHORST ◽  
ORLO H. CLARK ◽  
JAMES M. FALKO ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Novel Mutation ◽  
Mutation Screening ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Ret Mutation

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.

scholarly journals A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation

2016 ◽  
Vol 32 (11) ◽  
pp. 545-551 ◽  
Author(s):  
Li-Lun Chuang ◽  
Daw-Yang Hwang ◽  
Kun-Bow Tsai ◽  
Hon-Man Chan ◽  
Feng-Yu Chiang ◽  
...  
Keyword(s):  
Cohort Study ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Ret Mutation

scholarly journals Additive effect of RET polymorphisms on sporadic medullary thyroid carcinoma susceptibility and tumor aggressiveness

2012 ◽  
Vol 166 (5) ◽  
pp. 847-854 ◽  
Author(s):  
L. Ceolin ◽  
D. R. Siqueira ◽  
C. V. Ferreira ◽  
M. Romitti ◽  
S. C. Maia ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Additive Effect ◽  
Tumor Aggressiveness ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid

New Multiple Somatic Mutations in the RET Proto-oncogene Associated with a Sporadic Medullary Thyroid Carcinoma

Thyroid ◽  
2006 ◽  
Vol 16 (3) ◽  
pp. 311-316 ◽  
Author(s):  
Š. Dvořáková ◽  
E. Václavíková ◽  
V. Sýkorová ◽  
J. Dušková ◽  
P. Vlček ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Somatic Mutations ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid

Analysis of alternative mechanisms for RET gene activation in hereditary and sporadic Medullary Thyroid Carcinoma

2010 ◽  
Vol 203 (1) ◽  
pp. 50
Author(s):  
Ciampi Raffaele ◽  
Romei Cristina ◽  
Vivaldi Agnese ◽  
Cosci Barbara ◽  
Tacito Alessia ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Gene Activation ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Ret Gene
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