Basic And Clinical Study On Thyroid Nodules

PartⅠThe study on medullary thyroid carcinoma,multiple endocrineneoplasia RET proto-oncogene mutationObjective: Multiple endocrine neoplasia(MEN)is a Familial hereditary disease.It can be divided into Multiple endocrineneoplasia type I(MENl)and Multiple endocrine neoplasia type 2(MEN2).Up to now,about 1000 families have been diagnosed with MEN2 from all over the world.The prevalence rate of which is 1/30000.MEN2 is characterized by the clinical feature of medullarv thyroid carcinoma(MTC),unilateral or bilateral pheochromocytoma(PHEO)and parathyroid hyperplasia.MEN2 includes three subtypes:Multiple endocrine neoplasia type 2A(MEN2A),Multiple endocrine neoplasia type 2B(MEN2B)and Familial Medullary Carcinoma(FMTC).MEN2 A accounts for more than 75% of all MEN2 cases,and about 90% case of MEN2 A are characterized by the feature of MTC,50% of which are characterized by PHEO,and 20-30% cases are featured with Parathyroid hyperplasia or adenoma.To explore the clinical features and to study clinical significances for RET screening of sporadic multiple endocrine neoplasia type2A(MEN2A)patients.Methods:The clinical data and blood biochemistry tests,pathological results and images of 3 MEN2 A patients from January 2009 to December 2015 were analyzed.One patient who was firstly diagnosed with medullary thyroid carcinoma,the second one was firstly diagnosed medullary thyroid carcinoma,and then later followed with pheochromocytoma.The third patient was firstly diagnosed with pheochromocytoma,then followed with hyperparathyroidism.Genomic DNA was extracted from peripheral blood in patients and their offsprings who were clinically suspected with MEN2 A.Polymerase chain reaction(PCR)was performed to amplify mutations in hot spots regions,which are located mainly on exon10,11,16 of the RET proto-oncogene.PCR products were analysed by directed gene sequence analysis.Results:Missense mutations fromTGC(cys)to TCC(ser)and fromTGC(cys)to AGC(ser)at codon 618 in exon 10 and one missense mutations from TGC(cys)to CGC(arg)at codon 634 in exon 11 of the RET proto-oncogene were detected in the three probands respectively,while absent in their offsprings.Conclusions: Three patients of sporadic MEN2 A were confirmed with Ret gene mutation detection.Genetic test is an effective method to diagnose MEN2 A,especially when there is only one symptom found.Early genetic test and screening are necessary for their offsprings.PartⅡ Analysis on ultrasonography of thyroid benign or malignant nodulesObjective: To find out the risk factors in thyroid nodules by analyzing of sonographic features in thyroid nodules.Methods:The sonographic and pathological data were respectively studied in retrospect of 731 thyroid nodules,in which thyroidectomy were performed.The final diagnosis was established by pathological results.To differentiate between thyroid benign and malignant nodules by analyzing gender,age,calcification,shape,internal echo,intanodular vascular pattern,cervical lymphy nodules swelling,nodule number,nodule size,nodule boundary and other factors.Results: Calcification,irregular shape,hypoechoic,intanodular vascular pattern,cervical lymphy nodules swelling,single number,nodules size < 20 mm,blurred nodular margin were more common in malignant nodules as compared with begin nodules(p<0.05).Single factor analysis showed calcification,irregular shape,hypoechoic,cervical lymphy nodules swelling,nodules size < 20 mm,blurred nodular margin were more common in malignant nodules as compared with begin nodules(p<0.05).Logistic regression analysis showed that calcification,irregular shape,blurred nodular margin,young age,nodules size <10mm appearance were independent determinants of malignancy under ultrasound examination of thyroid nodules(P<0.05).Nodules size <10mm,calcification and irregular shape had significantly predicted effect.Conclusions: Calcification,irregular shape,blurred nodular margin,hypoechoic,young age,nodules size <10mm were risk factors of malignancy.Young people had higher malignant chance of thyroid nodules,age was negatively correlated with malignant thyroid nodules.The female patients had a higher prevance of thyroid nodules,but sex had no relation with the judgment of benign and malignant.Single or multiple nodules,blood flow within the nodules and cervical lymph nodes metastasis had no relation with thyroid benign or malignant nodules.