Abstract
Wisely differentiating high-risk papillary thyroid carcinoma (PTC) patients from low-risk PTC patients preoperatively is necessary when comes to making a personalized treatment plan. It is not easy to stratify the risk of patients according to sonography or lab results before surgery. This study aims to seek out potential mutation gene markers that may be helpful in stratifying the risk of PTC. A custom panel of 439 PTC relevant and classic tumor metabolic pathway relevant genes was designed. Targeted capture sequencing was performed on 35 pairs of samples from 35 PTC tumors and 35 para-tumor thyroid tissues obtained during surgery. Variant calling and detection of cancer gene mutations were identified by bio-information analysis. Ingenuity Pathway Analysis (IPA) was performed to do functional enrichment analysis of high-frequency mutant genes. Immunohistochemistry (IHC) was performed on 6 PTC patients to explore the expression of protein associated with interested genes. Event-free survival (EFS) was calculated to determine which genes might affect the prognosis of patients. We have identified 32 high-frequency mutant genes in PTC including BRAF. RBL2 was found to be significantly correlated to event-free survival, FOXO1, MUC6, PCDHB9, NOTCH1, FIZ1, and RTN1 were significantly associated with EFS, while BRAF mutant was not correlated to any of the prognosis indicators. Our findings in this study might open more choices when designing thyroid gene panels used in FNA samples to diagnose PTC and predict the potentially aggressive behavior of PTC.
Highlights
Thyroid carcinoma is the most common malignant tumor in the endocrine system which accounts for 96% malignant tumors of the head and neck
The patients were divided into two groups according to whether they recurred, no less than 5 metastatic lymph nodes confirmed after the first surgery, the preoperative American Thyroid Association (ATA) risk classification and RAI therapy was related to recurrence(p=0.031, 0.012 and 0.048)
Considering many potential functional contributions except for protein expression would be caused by mutation, other differentially mutated genes associated with papillary thyroid carcinoma (PTC) disease progression were re-screened again, and it was found that FOXO1, MUC6, PCDHB9, NOTCH1, FIZ1, RTN1 could be significantly associated with Event-free survival (EFS) (Figure 3d)
Summary
Thyroid carcinoma is the most common malignant tumor in the endocrine system which accounts for 96% malignant tumors of the head and neck. 50% of the patients are presented with lymph node metastases (LNM) at diagnosis, and in some cases, patients with micro papillary thyroid carcinoma could have macronodular lung metastasis [8, 9]. Considering the different nature of PTC and potential complication of thyroidectomy, doctors have to make a personalized treatment plan by wisely differentiating high-risk PTC patients from low-risk ones [10]. A strategy of active surveillance (AS) instead of immediate surgery is proposed for confirmed low-risk PTC patients [15]
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