scholarly journals Prophylactic thyroidectomy results among RET germline mutation bearers in families with hereditary forms of medullary thyroid cancer

2016 ◽  
Vol 12 (1) ◽  
pp. 22 ◽  
Author(s):  
Vladimir G. Polyakov ◽  
Ruslan V. Shishkov ◽  
Aleksei A. Ilyin ◽  
Severskaya N. Viktorovna ◽  
Natalia V. Ivanova ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Germline Mutation ◽  
Medullary Thyroid Cancer ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid

scholarly journals Late-Onset Medullary Thyroid Cancer in a Patient with a Germline RET Codon C634R Mutation

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1448
Author(s):  
Agnieszka Walczyk ◽  
Kajetan Zgubieński ◽  
Grzegorz Chmielewski ◽  
Kinga Hińcza-Nowak ◽  
Artur Kowalik ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
High Risk ◽  
Germline Mutation ◽  
Medullary Thyroid Cancer ◽  
Response To Therapy ◽  
American Thyroid Association ◽  
Prophylactic Thyroidectomy ◽  
Serum Calcitonin ◽  
Medullary Thyroid

Background: Multiple endocrine neoplasia type 2A (MEN2A) is a rare, hereditary syndrome resulting from a germline mutation in the RET proto-oncogene and characterized primarily by medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and hyperparathyroidism. Types of RET mutation have been associated with age at onset, clinical outcomes of MTC, and the penetrance of other components. Patients classified as ‘high-risk’ by the American Thyroid Association (ATA), based on the aggressiveness of MTC and the penetrance of other components, are recommended to undergo early prophylactic thyroidectomy at age ≤ 5 years and to be screened for PHEO at age ≥ 11 years. Patients with RET codon C634R mutations have been classified as high-risk. Case presentation: The present study describes a 71-year-old woman newly diagnosed with hereditary MTC related to a RET C634R germline mutation. Her basal serum calcitonin level was high, but there was no evidence of distant metastases. Surgery revealed bilateral MTC with two metastatic lymph nodes. Because microscopic resection was incomplete and extranodal extension was observed, the patient underwent adjuvant external beam radiotherapy. Response to therapy was excellent. Follow-up after 1.5 years showed no evidence of disease or other manifestations of MEN2A. Conclusion: Despite RET C634R carriers being classified as high-risk by the ATA, this patient did not present with either distant MTC or PHEO until her seventies. To our knowledge, only one other patient has shown a similar late identification of a RET C634R mutation, but MTC could not be diagnosed because the patient was lost to follow-up. Further research is required to develop optimal protocols that could allow patients requiring prophylactic thyroidectomy to be differentiated from those who can be monitored closely without early surgery.

scholarly journals A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer

Cancers ◽  
2020 ◽  
Vol 12 (6) ◽  
pp. 1441 ◽  
Author(s):  
Aayushi Srivastava ◽  
Beiping Miao ◽  
Diamanto Skopelitou ◽  
Varun Kumar ◽  
Abhishek Kumar ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Germline Mutation ◽  
Medullary Thyroid Cancer ◽  
Current Knowledge ◽  
Wild Type ◽  
Medullary Thyroid ◽  
Wild Type Counterpart ◽  
In Silico Analyses ◽  
Protection Of Telomeres 1

Non-medullary thyroid cancer (NMTC) is a common endocrine malignancy with a genetic basis that has yet to be unequivocally established. In a recent whole-genome sequencing study of five families with occurrence of NMTCs, we shortlisted promising variants with the help of bioinformatics tools. Here, we report in silico analyses and in vitro experiments on a novel germline variant (p.V29L) in the highly conserved oligonucleotide/oligosaccharide binding domain of the Protection of Telomeres 1 (POT1) gene in one of the families. The results showed a reduction in telomere-bound POT1 levels in the mutant protein as compared to its wild-type counterpart. HEK293T cells carrying POT1 p.V29L showed increased telomere length in comparison to wild-type cells, suggesting that the mutation causes telomere dysfunction and may play a role in predisposition to NMTC in this family. While one germline mutation in POT1 has already been reported in a melanoma-prone family with prevalence of thyroid cancers, we report the first of such mutations in a family affected solely by NMTCs, thus expanding current knowledge on shelterin complex-associated cancers.

scholarly journals Utility of serum thyroglobulin measurements after prophylactic thyroidectomy in patients with hereditary medullary thyroid cancer

Surgery ◽  
2014 ◽  
Vol 156 (2) ◽  
pp. 394-398
Author(s):  
Carolyn D. Seib ◽  
Avital Harari ◽  
Felix A. Conte ◽  
Quan-Yang Duh ◽  
Orlo H. Clark ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Prophylactic Thyroidectomy ◽  
Serum Thyroglobulin ◽  
Medullary Thyroid ◽  
Hereditary Medullary Thyroid Cancer
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