EN
Over the past 30 years, the incidence of thyroid carcinoma has continued to rise rapidly in many countries and regions around the world. In 2022, there will be nearly 800,000 new cases worldwide. Medullary thyroid carcinoma ( MTC ) is one of the subtypes of thyroid carcinoma. Although the incidence is low, the diagnosis of MTC is misdiagnosed and missed due to the lack of obvious clinical manifestations and strong invasiveness. Gene diagnosis based on molecular changes of thyroid carcinoma has been used as an auxiliary tool for pathological diagnosis in clinical practice. Studies have shown that RET gene mutations occur most frequently in MTC.
According to the genetic characteristics of the disease, MTC can be divided into two categories : hereditary ( 20 % -25 % ) and sporadic ( 75 % -80 % ). Almost all hereditary MTC are accompanied by germline mutations in the RET gene and are chromosomally dominant ; about 50 % of sporadic MTC have systematic mutations in the RET gene. Hereditary MTC can be divided into MEN2A ( 60 % -90 % ), MEN2B ( 5 % ) and familial MTC ( FMTC ). The most malignant type is MEN2B, and the least malignant type is FMTC.
RET gene mutation is the basis of the formation and development of MTC.RET gene mutation sites are diverse and show different biological behaviors, which is also the basis of individualized treatment of tumors. RET gene detection of MTC was carried out, so as to establish a precise, standardized and individualized management mode.
1.Suspected MTC patients with uncertain results diagnosed by US-FNA cytology ;
2.Advanced MTC patients to be selected for targeted therapy ;
3.Family hereditary and suspected patients with genetic tendency.
(1) Assisting in the diagnosis of benign and malignant thyroid nodules and the classification of thyroid carcinoma ;
(2) Guiding the surgical treatment ;
(3) Guiding the preventive surgery of hereditary MTC ;
(4) Guiding the selection of targeted drugs ;
(5) Genetic risk assessment of MTC.
Hot Spot Mutation
10 RET mutation sites are detected at the same time to assist MTC diagnosis and guide treatment
High Sensitivity
RET gene mutations with a content as low as 1 % in 10 ng DNA samples can be detected
Genetic Evaluation
RET gene mutation somatic and germline detection can be carried out, and genetic risk can be preliminarily evaluated with high cost performance
Double Quality Control System
Internal and external control monitors the detection process at the same time to ensure the accuracy of the test results
1、Nucleic Acid Extraction
2、Set up qPCR
3、Amplification
4、Data Analysis
闽公网安备35021202000745