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

被引：18

作者：

Wei, Shuanzeng ^{[1
,2
]}

LiVolsi, Virginia A. ^{[1
]}

Montone, Kathleen T. ^{[1
]}

Morrissette, Jennifer J. D. ^{[3
]}

Baloch, Zubair W. ^{[1
]}

机构：

[1] Hosp Univ Penn, Dept Pathol & Lab Med, 3400 Spruce St, Philadelphia, PA 19104 USA

[2] Fox Chase Canc Ctr, Dept Pathol, Philadelphia, PA 19111 USA

[3] Hosp Univ Penn, Dept Pathol & Lab Med, 3020 Market St, Philadelphia, PA 19104 USA

来源：

ENDOCRINE PATHOLOGY | 2016年 / 27卷 / 04期

关键词：

Medullary thyroid carcinoma; RET; HRAS; Mutation; ENDOCRINE NEOPLASIA TYPE-2; RET PROTOONCOGENE; RAS MUTATIONS; CANCER; MANAGEMENT; SPECTRUM;

D O I：

10.1007/s12022-016-9446-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Medullary 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.

引用

页码：359 / 362

页数：4

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