Assessing the clinical diagnostic utility of multiplex ddPCR assays in thyroid nodules.
1/5 보강
PICO 자동 추출 (휴리스틱, conf 2/4)
유사 논문P · Population 대상 환자/모집단
201 patients, with parallel ARMS-PCR testing for p.
I · Intervention 중재 / 시술
추출되지 않음
C · Comparison 대조 / 비교
추출되지 않음
O · Outcome 결과 / 결론
Integration with cytology substantially reduces indeterminate diagnoses and may guide personalized management, including the avoidance of unnecessary surgery. [SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1186/s13044-026-00292-9.
[BACKGROUND] Ultrasound-guided fine-needle aspiration cytology (FNAC) is the standard method for evaluating thyroid nodules, but 20–40% of specimens are still cytologically indeterminate (Bethesda III
- Sensitivity 71%
- Specificity 96%
APA
Li X, Shen C, et al. (2026). Assessing the clinical diagnostic utility of multiplex ddPCR assays in thyroid nodules.. Thyroid research, 19(1). https://doi.org/10.1186/s13044-026-00292-9
MLA
Li X, et al.. "Assessing the clinical diagnostic utility of multiplex ddPCR assays in thyroid nodules.." Thyroid research, vol. 19, no. 1, 2026.
PMID
41862948
Abstract
[BACKGROUND] Ultrasound-guided fine-needle aspiration cytology (FNAC) is the standard method for evaluating thyroid nodules, but 20–40% of specimens are still cytologically indeterminate (Bethesda III–IV), leading to repeat biopsies or diagnostic lobectomy. We hypothesized that a multiplex droplet digital PCR (ddPCR) assay covering key thyroid-cancer driver mutations would increase the pre-operative diagnostic yield.
[METHODS] A six-gene ddPCR panel was developed to detect p.V600E, promoter mutations c.-124 C > T (C228T) and c.-146 C > T (C250T), p.H1047R/L, and all clinically relevant variants in , , and at codons 12, 13, and 61. Analytical performance was established using plasmid controls. The assays were subsequently applied to 210 prospectively collected fine-needle aspiration (FNA) specimens from 201 patients, with parallel ARMS-PCR testing for p.V600E and histopathological confirmation available for 49 surgically excised nodules.
[RESULTS] The six-gene ddPCR panel demonstrated 100% analytical specificity and a limit of detection of 0.1% variant allele frequency (VAF). In clinical samples, 103 of 210 nodules (49%) harbored at least one mutation, with p.V600E being the most prevalent alteration (81/103, 78.6%). ddPCR identified five low-abundance p.V600E mutations (VAF 0.37–2.96%) that were missed by ARMS-PCR, one of which was confirmed as papillary thyroid carcinoma on postoperative pathology. Mutation prevalence increased progressively across Bethesda categories, ranging from 33% in Bethesda I to 89% in Bethesda VI. Compared with surgical pathology, the combination of the six-gene ddPCR panel and FNAC achieved 100% sensitivity, 71% specificity, and 96% diagnostic accuracy, significantly outperforming FNAC alone or FNAC combined with ARMS-PCR ( < 0.05).
[CONCLUSIONS] This study developed a six-gene mutation detection panel composed of four multiplex droplet digital PCR (ddPCR) assays for thyroid nodule analysis. Integration with cytology substantially reduces indeterminate diagnoses and may guide personalized management, including the avoidance of unnecessary surgery.
[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1186/s13044-026-00292-9.
[METHODS] A six-gene ddPCR panel was developed to detect p.V600E, promoter mutations c.-124 C > T (C228T) and c.-146 C > T (C250T), p.H1047R/L, and all clinically relevant variants in , , and at codons 12, 13, and 61. Analytical performance was established using plasmid controls. The assays were subsequently applied to 210 prospectively collected fine-needle aspiration (FNA) specimens from 201 patients, with parallel ARMS-PCR testing for p.V600E and histopathological confirmation available for 49 surgically excised nodules.
[RESULTS] The six-gene ddPCR panel demonstrated 100% analytical specificity and a limit of detection of 0.1% variant allele frequency (VAF). In clinical samples, 103 of 210 nodules (49%) harbored at least one mutation, with p.V600E being the most prevalent alteration (81/103, 78.6%). ddPCR identified five low-abundance p.V600E mutations (VAF 0.37–2.96%) that were missed by ARMS-PCR, one of which was confirmed as papillary thyroid carcinoma on postoperative pathology. Mutation prevalence increased progressively across Bethesda categories, ranging from 33% in Bethesda I to 89% in Bethesda VI. Compared with surgical pathology, the combination of the six-gene ddPCR panel and FNAC achieved 100% sensitivity, 71% specificity, and 96% diagnostic accuracy, significantly outperforming FNAC alone or FNAC combined with ARMS-PCR ( < 0.05).
[CONCLUSIONS] This study developed a six-gene mutation detection panel composed of four multiplex droplet digital PCR (ddPCR) assays for thyroid nodule analysis. Integration with cytology substantially reduces indeterminate diagnoses and may guide personalized management, including the avoidance of unnecessary surgery.
[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1186/s13044-026-00292-9.
같은 제1저자의 인용 많은 논문 (5)
- Progress of clinical research on fractional laser treatment of androgenetic alopecia: A review article.
- Efficacy and Safety of Botulinum Toxin Type A for Treatment of Glabellar Lines: A Network Meta-Analysis of Randomized Controlled Trials.
- Sunken Upper Eyelid Deformity Correction by Orbital Fat Pad Repositioning and Orbicularis Oculi Muscle Folding in Blepharoplasty.
- Forehead Fat Grafting: Asian Facial Contouring and Augmentation.
- Effects of Virtual Reality-Based Cognitive Behavioral Therapy on Sick Role Adaptation for Patients With Colorectal Cancer: A Randomised Controlled Trial.