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Wei S , LiVolsi VA , Montone KT , Morrissette JJ , Baloch ZW
Detection of Molecular Alterations in Medullary Thyroid Carcinoma Using Next-Generation Sequencing: an Institutional Experience
Endocr Pathol. 2016 Dec;27(4) :359-362
PMID: 27379493 URL: https://www.ncbi.nlm.nih.gov/pubmed/27379493
AbstractMedullary thyroid carcinoma (MTC) harbors rearranged during transfection (RET) gene and rarely RAS gene mutations. The knowledge of the type of gene mutation in MTC is important to determine the treatment of the patients and the management of their family members. Targeted next-generation sequencing with a panel of 47 genes was performed in a total of 12 cases of sporadic (9/12) and hereditary MTC (3/12). Two of three hereditary MTCs had RET/C634R mutation, while the other one harbored two RET mutations (L790F and S649L). All the sporadic MTC had RET/M918T mutation except one case with HRAS mutation. Next-generation sequencing (NGS) can provide comprehensive analysis of molecular alterations in MTC in a routine clinical setting, which facilitate the management of the patient and the family members.
NotesWei, Shuanzeng LiVolsi, Virginia A Montone, Kathleen T Morrissette, Jennifer J D Baloch, Zubair W Endocr Pathol. 2016 Dec;27(4):359-362. doi: 10.1007/s12022-016-9446-3.