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Int. J. Mol. Sci. 2017, 18(4), 806; doi:10.3390/ijms18040806

Diagnostic Limitation of Fine-Needle Aspiration (FNA) on Indeterminate Thyroid Nodules Can Be Partially Overcome by Preoperative Molecular Analysis: Assessment of RET/PTC1 Rearrangement in BRAF and RAS Wild-Type Routine Air-Dried FNA Specimens

1
Diagnostic Pathology Center, Seegene Medical Foundation, Seoul KS013, Korea
2
Molecular Genetics and Pathology, Department of Medicine, Graduate School of Konkuk University, Seoul KS013, Korea
3
Department of Pathology, Konkuk University School of Medicine, Seoul KS013, Korea
4
Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul KS013, Korea
5
Department of Pathology, Konkuk University Medical Center, Seoul KS013, Korea
6
Department of Internal Medicine, Konkuk University School of Medicine, Seoul KS013, Korea
7
Department of Surgery, Konkuk University School of Medicine, Seoul KS013, Korea
*
Author to whom correspondence should be addressed.
Academic Editor: Daniela Gabriele Grimm
Received: 21 February 2017 / Revised: 28 March 2017 / Accepted: 7 April 2017 / Published: 12 April 2017
(This article belongs to the Special Issue Current Knowledge in Thyroid Cancer—From Bench to Bedside)
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Abstract

Molecular markers are helpful diagnostic tools, particularly for cytologically indeterminate thyroid nodules. Preoperative RET/PTC1 rearrangement analysis in BRAF and RAS wild-type indeterminate thyroid nodules would permit the formulation of an unambiguous surgical plan. Cycle threshold values according to the cell count for detection of the RET/PTC1 rearrangement by real-time reverse transcription-polymerase chain reaction (RT-PCR) using fresh and routine air-dried TPC1 cells were evaluated. The correlation of RET/PTC1 rearrangement between fine-needle aspiration (FNA) and paired formalin-fixed paraffin-embedded (FFPE) specimens was analyzed. RET/PTC1 rearrangements of 76 resected BRAF and RAS wild-type classical PTCs were also analyzed. Results of RT-PCR and the Nanostring were compared. When 100 fresh and air-dried TPC1 cells were used, expression of RET/PTC1 rearrangement was detectable after 35 and 33 PCR cycles, respectively. The results of RET/PTC1 rearrangement in 10 FNA and paired FFPE papillary thyroid carcinoma (PTC) specimens showed complete correlation. Twenty-nine (38.2%) of 76 BRAF and RAS wild-type classical PTCs had RET/PTC1 rearrangement. Comparison of RET/PTC1 rearrangement analysis between RT-PCR and the Nanostring showed moderate agreement with a κ value of 0.56 (p = 0.002). The RET/PTC1 rearrangement analysis by RT-PCR using routine air-dried FNA specimen was confirmed to be technically applicable. A significant proportion (38.2%) of the BRAF and RAS wild-type PTCs harbored RET/PTC1 rearrangements. View Full-Text
Keywords: RET/PTC gene rearrangement; air-dried FNA specimen; RT-PCR; Nanostring RET/PTC gene rearrangement; air-dried FNA specimen; RT-PCR; Nanostring
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Ko, Y.S.; Hwang, T.S.; Kim, J.Y.; Choi, Y.-L.; Lee, S.E.; Han, H.S.; Kim, W.S.; Kim, S.K.; Park, K.S. Diagnostic Limitation of Fine-Needle Aspiration (FNA) on Indeterminate Thyroid Nodules Can Be Partially Overcome by Preoperative Molecular Analysis: Assessment of RET/PTC1 Rearrangement in BRAF and RAS Wild-Type Routine Air-Dried FNA Specimens. Int. J. Mol. Sci. 2017, 18, 806.

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