A thyroid nodule is diagnosed, can it be cancer? Genetic testing can help identify, effective diagnosis and treatment

Thyroid nodules are a very common lesion. The detection rate of palpation in the general population is 3%-7%, and if high-resolution ultrasound is used, the detection rate can reach 20%-76%. Among them, about 5%-15% of thyroid nodules are malignant, that is, thyroid cancer. Although thyroid cancer has been dubbed “the laziest cancer”, it is also the fastest growing malignancy and deserves everyone’s attention.

This article will tell you how to correctly identify thyroid cancer, and take effective treatment in a timely manner to accurately prevent and treat thyroid cancer.

1. What should I do if a thyroid nodule is detected by physical examination?

A thyroid nodule is a lesion caused by the abnormal growth of thyroid cells in the local area. Thyroid nodules are very common, and more than 90% are benign. In normal cases, only close observation is required.

However, about 5% of thyroid nodules are malignant, that is, thyroid cancer. At this time, it is necessary to judge whether to operate immediately and choose the best follow-up treatment plan.

  • How to distinguish benign from malignant thyroid nodules?

In clinical practice, when the nodule is suspected to be malignant, fine needle aspiration is usually used to take some nodule tissue and put it under a microscope for careful observation. The diagnosis is determined by the pathologist’s judgment, a method called fine needle aspiration cytopathology (abbreviation: FNA), which is the gold standard for diagnosing tumors. However, about 20%-30% of nodules cannot be definitively diagnosed by FNA, in which case genetic testing is required.

Second, the three major functions of genetic testing, the diagnosis and treatment of thyroid cancer is more effective

Genetic testing can distinguish benign from malignant, early screening for hereditary thyroid cancer, and guide targeted therapy!

1. Identify benign and malignant thyroid nodules

We know that the occurrence of malignant tumors is the result of gene mutation, so the mutation status of certain genes should be detected May indicate the probability of malignancy. For example, in patients with BRAF-mutated thyroid nodules, the probability of malignancy is as high as 99%. If two high-risk mutations (such as BRAF mutation + TERT promoter mutation) occur at the same time, the tumor may be more malignant, and the risk of postoperative recurrence is also high. will be higher.

2. Early screening for hereditary thyroid cancer

Although most tumor gene mutations are “somatic mutations” and are not inherited, but There are still many cases of familial disease in life, so whether there is also a familial risk of thyroid cancer? The answer is: yes, but very few!

For example, medullary thyroid cancer (MTC) with a high degree of malignancy has a low incidence rate, but about a quarter of them are inherited in families, and these patients often carry the germline of the RET gene mutation. Moreover, the risk and degree of malignancy of mutations at different sites in the RET gene are also very different. Therefore, for people with a family history of the disease, early screening for RET gene mutation through genetic testing can prevent and treat them in time, saving lives.

3. Guiding targeted therapy for advanced thyroid cancer

Targeted therapy is a precise treatment method that gives targeted drug therapy based on the specific gene mutation information carried by the patient. In the field of thyroid cancer, a variety of targeted drugs have been used in clinical practice. These drugs mainly target gene targets such as BRAF mutation, RAS mutation, TERT promoter mutation, RET gene fusion, and NTRK gene fusion. Therefore, for patients diagnosed with thyroid cancer, suitable targeted drugs can be found through the detection of these genes, and symptomatic and precise treatment can be performed.

Sola Fenib: FDA/NMPA approved

Molecular targets: VEGFR, CRAF, BRAF, RET, c-KIT, PDGFR

Indications: for the treatment of radioactive iodine Refractory differentiated thyroid cancer

Lenvatinib: FDA approved

Molecular targets: VEGFR, FGFR, CRAF, BRAF, RET, c -KIT, PDGFR

Indications: For the treatment of aggressive, locally advanced or metastatic differentiated thyroid cancer

Cabotinib: FDA approved

Molecular targets: VEGFR, MET, c-KIT, RET, FLT3

Indications: for the treatment of advanced and metastatic medullary thyroid cancer

Vandetanib: FDA approved

Molecular targets: VEGFR, MET, c-KIT, RET, FLT3

Indications: for the treatment of patients who cannot Surgery, disease progression, or symptomatic advanced medullary thyroid cancer

pratinib: FDA-approved

Molecular target: RET fusion

Indications: 1. Advanced or metastatic RET-positive medullary thyroid cancer in adults and children over 12 years of age who require systemic therapy, 2. Advanced or metastatic RET fusion-positive thyroid that requires systemic therapy and is resistant to radioactive iodine therapy Adult and pediatric patients with medullary carcinoma

Sapaltinib: FDA-approved

Molecular target: RET fusion

< p> Indications: 1. Advanced or metastatic RET-positive medullary thyroid cancer in adults and children over 12 years of age who require systemic therapy, 2. Advanced or metastatic RET fusion-positive medullary thyroid cancer who require systemic therapy and are resistant to radioactive iodine therapy Cancer adults and children over 12 years old

3. How to choose a suitable genetic testing project?

The “Guiding Principles for the Clinical Application of New Anti-Tumor Drugs (2021 Edition)” issued by the National Health and Medical Commission clearly stipulates the clinical use of tumor-targeted drugs:

1. It must be detected before medication

Currently, thyroid cancer is mainly recommended to detect BRAFKRASNRASHRASTERTRET and other genes with clear clinical significance. Therefore, it is very important to test these genes before taking drugs, which is related to the correct use of drugs. Only when the right drugs are used, the treatment will be effective.

2. Compliance testing methods and reagents approved by the National Medical Products Administration (NMPA) must be used

Simply put, it is the use of state-approved testing methods and reagents. product! Among the aforementioned genes, such as BRAF, KRAS, NRAS, etc., corresponding testing products have been approved for marketing, and corresponding testing can be carried out in hospitals. For genetic testing products that have not yet been approved, hospitals with relevant clinical testing qualifications must be sought. or medical laboratory testing.

Write at the end:With the improvement of detection level, thyroid nodules and thyroid cancer in my country Significant increase, the emergence of diagnostic molecular markers has promoted the development of clinical diagnosis and treatment of thyroid nodules/cancer, such as diagnosis, treatment, and genetic screening, and patients have also benefited from it.

This article aims to popularize the science behind cancer, not to promote drugs, nor to recommend treatment plans. For guidance on disease treatment plans, please go to a regular hospital for treatment.