In the second edition of the NCCN Guidelines for Thyroid Carcinoma in 2019, it is mentioned that Bethesda three types and four types and follicular tumors should consider molecular diagnosis. Different molecular events have different treatments. The guide specifically mentions that molecular diagnostic tests that use molecular classifiers to detect single mutations (such as BRAF V600E, RET / PTC, RAS, PAX8 / PPARγ) may help to evaluate uncertain FNA samples to help management decisions. The BRAF V600E mutation occurs in approximately 45% of patients with papillary carcinoma and is the most common mutation. Some studies have linked the BRAF V600E mutation to poor prognosis, especially when the TERT promoter mutation occurs.
In the2016 Chinese consensus on diagnosis and treatment of thyroid micropapillary carcinoma, it is mentioned that the detection of auxiliary molecular markers can further improve the preoperative diagnosis rate. In the consensus, the detection of auxiliary molecular markers can further improve the preoperative diagnosis rate of PTMC,and Class C recommendation is made. In the later pathological diagnosis, molecular pathological diagnosis is mentioned, and a series of molecular markers are listed. Some studies have confirmed that the pre-operative BRAF detection has guiding significance for the surgical plan, and has certain clinical value for recurrence and follow-up.
The 2016 AACE-ACE-AME guidelines mentions the diagnosis and management of thyroid nodules and the application of molecular diagnostics to detect thyroid nodules in up to 50% to 60% of healthy subjects. Most nodules do not cause clinically obvious symptoms. Therefore, the main challenge of treatment is to exclude malignant tumors. Ultrasonography (US) and fine-needle aspiration (FNA) biopsy can be used as the cornerstone of diagnosis. It is also pointed out that cytologically uncertain nodules can be diagnosed by molecular detection to detect BRAF and RET / PTC and PAX8 / PPARG and RAS mutations.
2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer mentions that molecular diagnosis can be used as an auxiliary diagnostic tool. Molecular markers may be classified according to the intended purpose of use, divided into: diagnosis (determination of disease conditions, classification), prognostic indicators, or predictive (pre-estimate harmful or beneficial risks for special treatments) . In addition, the adjuvant use of predictive molecular markers involves patient personalized medications, which can be shown to be beneficial or harmful to the treatment and have a potential impact on proper clinical stratification of treatment.