Search for new candidate genes in RET mutation-negative families with hereditary medullary thyroid carcinoma using next generation sequencing

2015 ◽  
Author(s):  
Eliska Vaclavikova ◽  
Sarka Dvorakova ◽  
Vlasta Sykorova ◽  
Josef Vcelak ◽  
Tereza Halkova ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Thyroid Carcinoma ◽  
Candidate Genes ◽  
Medullary Thyroid Carcinoma ◽  
Next Generation ◽  
Medullary Thyroid ◽  
Ret Mutation ◽  
Hereditary Medullary Thyroid Carcinoma ◽  
Generation Sequencing

Detection of Molecular Alterations in Medullary Thyroid Carcinoma Using Next-Generation Sequencing: an Institutional Experience

2016 ◽  
Vol 27 (4) ◽  
pp. 359-362 ◽  
Author(s):  
Shuanzeng Wei ◽  
Virginia A. LiVolsi ◽  
Kathleen T. Montone ◽  
Jennifer J. D. Morrissette ◽  
Zubair W. Baloch
Keyword(s):  
Next Generation Sequencing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Next Generation ◽  
Medullary Thyroid ◽  
Molecular Alterations ◽  
Institutional Experience ◽  
Generation Sequencing

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

scholarly journals Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1

2018 ◽  
Vol 178 (2) ◽  
pp. K1-K9 ◽  
Author(s):  
Laura Gieldon ◽  
Jimmy Rusdian Masjkur ◽  
Susan Richter ◽  
Roland Därr ◽  
Marcos Lahera ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Clinical Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Germline Mutations ◽  
Next Generation ◽  
Medullary Thyroid

Objective Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1). Design We performed genetic analysis of known tumor predisposition genes, including NF1, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients. We did not exclude genes known to cause clinically defined syndromes such as NF1 based on missing phenotypic expression as is commonly practiced. Methods Genetic analysis was performed using NGS (TruSight Cancer Panel/customized panel by Illumina) for analyzing patients’ blood and tumor samples. Validation was carried out by Sanger sequencing. Results Within our cohort, three patients, who were identified to carry pathogenic NF1 germline mutations, attracted attention, since none of the patients had a clinical suspicion of NF1 and one of them was initially suspected to have MEN2A syndrome due to co-occurrence of a medullary thyroid carcinoma. In these cases, one splice site, one stop and one frameshift mutation in NF1 were identified. Conclusions Since phenotypical presentation of NF1 is highly variable, we suggest analysis of the NF1 gene also in PPGL patients who do not meet diagnostic NF1 criteria. Co-occurrence of medullary thyroid carcinoma and PPGL was found to be a clinical decoy in NF1 diagnostics. These observations underline the value of multi-gene panel NGS for PPGL patients.

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
Sign in / Sign up

Export Citation Format

Share Document