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Detection of Molecular Alterations in Medullary Thyroid Carcinoma Using Next-Generation Sequencing: an Institutional
Shuanzeng Wei1,2, Virginia A LiVolsi3, Kathleen T Montone3
1Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. weishuanzeng@hotmail.com.
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.
Insights
Medullary thyroid carcinoma (MTC) genetic mutations, primarily in the RET gene, guide patient treatment. Next-generation sequencing accurately identifies these mutations for better MTC management.
Area of Science:
- Oncology
- Genetics
- Molecular Diagnostics
Background:
- Medullary thyroid carcinoma (MTC) is often associated with mutations in the rearranged during transfection (RET) gene, and less frequently, RAS gene mutations.
- Identifying specific gene mutations in MTC is crucial for effective patient treatment and family screening.
Purpose of the Study:
- To investigate the spectrum of gene mutations in both sporadic and hereditary Medullary Thyroid Carcinoma (MTC) using targeted next-generation sequencing.
- To evaluate the utility of next-generation sequencing (NGS) in the clinical diagnosis and management of MTC.
Main Methods:
- Targeted next-generation sequencing (NGS) employing a 47-gene panel.
- Analysis of 12 MTC cases, comprising 9 sporadic and 3 hereditary.
Main Results:
- Hereditary MTC cases showed RET mutations, including RET/C634R and dual RET mutations (L790F, S649L).
- Sporadic MTC cases predominantly exhibited the RET/M918T mutation, with one case showing a HRAS mutation.
Conclusions:
- Next-generation sequencing (NGS) provides a comprehensive molecular analysis of MTC in a clinical setting.
- Accurate molecular profiling of MTC facilitates personalized patient management and family member evaluation.
