Is thyroid cancer gene testing useful? What is the significance of thyroid cancer gene testing?

Is genetic testing for thyroid cancer useful? The harm caused by the emergence of thyroid cancer to patients and even the entire family cannot be expressed in words. Although current medical technology has made great progress and development, and cancer prevention measures have also become widely popular, there are still many people who suffer from the great torture of cancer. So, for a disease like thyroid cancer, is genetic testing useful?

The preoperative diagnosis of thyroid cancer mainly relies on fine needle aspiration cytology (FNA), but some patients have difficulty in diagnosis through cytology. With the development of molecular detection technology, the detection of thyroid cancer-related genes can accurately distinguish between papillary thyroid cancer and follicular thyroid cancer for some puncture or surgical resection tissues that are difficult to diagnose, combining the test results of BRAF, RET/PTC and PAX8/PPAR genes.

The significance of thyroid cancer gene testing is as follows:

1. BRAF gene mutation and RET/PTC have good specificity for papillary thyroid carcinoma. For papillary thyroid carcinoma, the overall BRAF mutation positive rate is about 45%. If the cytology test results are atypical or difficult to diagnose, but the BRAF mutation is positive, it can almost be diagnosed as papillary thyroid carcinoma.

2. For those with positive BRAF mutation, 90% are accompanied by V600E rearrangement, which is often associated with tumor progression such as thyroid tumor invasion, lymph node and distant metastasis. The latest studies have shown that such patients also have a relatively poor prognosis and poor response to iodine-131 treatment. This is mainly due to the BRAF mutation that prevents iodine-131 from entering tumor cells. In addition, it is encouraging that molecular targeted drugs such as vemurafenib, which target gene mutations such as BRAF, have brought hope to the treatment of patients with advanced papillary thyroid cancer.

3. Although Ras gene mutations are not specific to papillary carcinoma and follicular carcinoma, Ras mutations are usually combined with other types of mutations, so they are also clinically significant. If the cytology examination is "follicular lesions with positive Ras mutations", it indicates a follicular subtype of papillary thyroid carcinoma or a thyroid adenoma, and the latter is more likely to be in the transition stage from adenoma to follicular thyroid carcinoma.

Gene mutation detection is the gold standard for early diagnosis, and it can detect asymptomatic carriers of mutation genes at an early stage. Of course, whether preventive resection is necessary should also be combined with relevant biochemical indicators, such as calcitonin levels. After all, after thyroidectomy, the thyroid function is lost, which can cause problems such as hypothyroidism.