title: Assessment of molecular testing in fine-needle aspiration biopsy samples: an experience in a Chinese population.
abstract: Fine-needle aspiration biopsy remains the mainstay for preoperative examination of thyroid nodules; however, it does not provide a definite diagnosis in up to 25% of nodules. Considerable studies have been performed to identify molecular markers to resolve this diagnostic dilemma. The aim of this study was to establish the distribution and frequency of common genetic alterations in a comprehensive set of benign and malignant thyroid nodules, and to determine the feasibility and role of testing for a panel of genetic alterations in improving the accuracy of cytology diagnosis in a Chinese population. This study was conducted in 314 thyroid nodules comprising 104 papillary thyroid carcinomas, 13 suspicious nodules, 52 indeterminate nodules, and 145 benign nodules. Point mutations and RET/PTC rearrangements, were evaluated by pyrosequencing and TaqMan real-time PCR, respectively. After surgery, 115 nodules were confirmed as conventional papillary thyroid carcinoma and 102 (88.70%) of these nodules harbored either the BRAF(V600E) mutation (76.52%) or RET/PTC rearrangements (12.17%). RAS mutation was found in 1 (33.33%) follicular thyroid carcinoma, 1 (14.29%) follicular thyroid adenoma and 4 (10%) goiter nodules. With cytology and molecular testing, the diagnostic accuracy was further increased to 98.82% in papillary thyroid carcinoma diagnosis, and was preoperatively increased to 76.92% and 84.00%, respectively, in nodules with suspicious and indeterminate cytology. In conclusion, molecular testing of a panel of genetic alterations in fine-needle aspiration biopsy can be effectively performed in clinical practice. It enhances the accuracy of cytology and is of particular value for indeterminate nodules in the Chinese population.
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Shu
authors.initials: S
authors.lastname: Liu
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Aibo
authors.initials: A
authors.lastname: Gao
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Bingfei
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Zhaoxia
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Yanru
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Pu
authors.initials: P
authors.lastname: Chen
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Meiju
authors.initials: M
authors.lastname: Ji
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China.
authors.forename: Peng
authors.initials: P
authors.lastname: Hou
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710061, PR China. Electronic address: shibingy@126.com.
authors.forename: Bingyin
authors.initials: B
authors.lastname: Shi
mesh_terms: D044963:Biopsy, Fine-Needle / Q000379:methods; D002277:Carcinoma / Q000235:genetics / Q000473:pathology*; D002681:China; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D057089:Pathology, Molecular / Q000379:methods; D011237:Predictive Value of Tests; D011518:Proto-Oncogene Proteins / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras); D017422:Sequence Analysis, DNA / Q000379:methods; D013964:Thyroid Neoplasms / Q000235:genetics / Q000473:pathology*; D016606:Thyroid Nodule / Q000473:pathology; D018631:ras Proteins / Q000235:genetics
chemical_list: C117307:KRAS protein, human; D008565:Membrane Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D020558:GTP Phosphohydrolases; C579846:NRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins
keywords: Chinese population; Fine-needle aspiration biopsy; Genetic alterations; Thyroid nodules