Endocrinol Metab.  2016 Dec;31(4):586-591. 10.3803/EnM.2016.31.4.586.

Molecular Diagnosis Using Residual Liquid-Based Cytology Materials for Patients with Nondiagnostic or Indeterminate Thyroid Nodules

• Kwon H
• Kim WG
• Eszlinger
• Paschke R
• Song DE
• Kim M
• Park S
• Jeon MJ
• Kim TY
• Shong YK
• Kim WB

• KMID: 2373079
• DOI: http://doi.org/10.3803/EnM.2016.31.4.586

Abstract

BACKGROUND
Molecular analysis for common somatic mutations in thyroid cancer can improve diagnostic accuracy of fine-needle aspiration cytology (FNAC) in the nondiagnostic or indeterminate category of thyroid nodules. In this study, we evaluated the feasibility of molecular diagnosis from residual liquid-based cytology (LBC) material after cytological diagnosis.
METHODS
This prospective study enrolled 53 patients with thyroid nodules diagnosed as nondiagnostic, atypia of undetermined significance (AUS), or follicular lesion of undetermined significance (FLUS) after FNAC. DNAs and RNAs were isolated from residual LBC materials. BRAF(V600E) and RAS point mutations, PAX8/peroxisome proliferator-activated receptor γ (PPARγ), RET/PTC1, and RET/PTC3 rearrangements were evaluated by real-time polymerase chain reaction and pyrosequencing.
RESULTS
All DNAs from 53 residual LBC samples could be analysed and point mutations were detected in 10 samples (19%). In 17 AUS nodules, seven samples (41%) had point mutations including BRAF (n=4), NRAS (n=2), and KRAS (n=1). In 20 FLUS nodules, three samples (15%) had NRAS point mutations. RNA from only one FLUS nodule could be analysed for rearrangements and there was no abnormality.
CONCLUSION
Molecular analysis for BRAF and RAS mutations was feasible in residual LBC materials and might be useful for diagnosis of indeterminate thyroid nodules.

Keyword

Molecular diagnostic techniques; Biopsy, fine-needle; Thyroid aspiration; Thyroid nodule; Thyroid neoplasms

MeSH Terms

Biopsy, Fine-Needle
Diagnosis*
DNA
Humans
Molecular Diagnostic Techniques
Point Mutation
Prospective Studies
Real-Time Polymerase Chain Reaction
RNA
Thyroid Gland*
Thyroid Neoplasms
Thyroid Nodule*
DNA
RNA

Figure

• 

  Fig. 1 All DNAs from 53 residual liquid-based cytology samples could be analysed for point mutations by real-time polymerase chain reaction or pyrosequencing. AUS, atypia of undetermined significance; FLUS, follicular lesion of undetermined significance.

• 

  Fig. 2 Only one RNA sample from a follicular lesion of undetermined significance (FLUS) thyroid nodule could be analysed for rearrangements. AUS, atypia of undetermined significance

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