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

Shuanzeng Wei; Virginia A. LiVolsi; Kathleen T. Montone; Jennifer J.D. Morrissette; Zubair W. Baloch

doi:10.1007/s12022-016-9446-3

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

Shuanzeng Wei, Virginia A. LiVolsi, Kathleen T. Montone, Jennifer J.D. Morrissette, Zubair W. Baloch

Pathology

University of Pennsylvania

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	359-362
Number of pages	4
Journal	Endocrine Pathology
Volume	27
Issue number	4
DOIs	https://doi.org/10.1007/s12022-016-9446-3
State	Published - Dec 1 2016

Keywords

HRAS
Medullary thyroid carcinoma
Mutation
RET

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10.1007/s12022-016-9446-3

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

abstract = "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.",

keywords = "HRAS, Medullary thyroid carcinoma, Mutation, RET",

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AU - LiVolsi, Virginia A.

AU - Montone, Kathleen T.

AU - Morrissette, Jennifer J.D.

AU - Baloch, Zubair W.

PY - 2016/12/1

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AB - 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.

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

Abstract

Keywords

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