{"entity": "publication", "iuid": "7a1e9b52b85b4900b54de0691a4cdcd4", "timestamp": "2026-08-10T22:52:11.824Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7a1e9b52b85b4900b54de0691a4cdcd4.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7a1e9b52b85b4900b54de0691a4cdcd4"}}, "title": "Increased diagnostic sensitivity of palpation-guided thyroid nodule fine-needle aspiration cytology by BRAF V600E-mutation analysis.", "authors": [{"family": "Gimm", "given": "Oliver", "initials": "O"}, {"family": "Ivansson", "given": "Kristin", "initials": "K"}, {"family": "Beka", "given": "Ervin", "initials": "E"}, {"family": "Rossitti", "given": "Hugo M", "initials": "HM"}, {"family": "Garvin", "given": "Stina", "initials": "S"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}], "type": "journal article", "published": "2021-11-00", "journal": {"title": "J Pathol Clin Res", "issn": "2056-4538", "issn-l": null, "volume": "7", "issue": "6", "pages": "556-564"}, "abstract": "Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer and its incidence is increasing. Preoperative diagnosis is warranted in order to avoid 'two-stage' procedures that are associated with additional costs and higher radioactive iodine remnant uptake. In the setting of thyroid cancer, somatic BRAF V600E-mutations are highly specific for PTC and can be analyzed in aspirates from fine-needle aspiration cytology (FNAC). The 'gold standard' to perform FNAC is ultrasound guidance. Here, we analyze whether adding BRAF V600E-mutation analysis could be of value in palpation-guided FNACs. A total of 430 consecutive patients were included. Ultrasound-guided FNACs were performed in 251 patients and 179 patients underwent palpation-guided FNACs. BRAF V600E-mutation analysis was performed using two methods, an allele-specific polymerase chain reaction (PCR) analyzed by capillary gel electrophoresis (PCR/Qiaxcel), and a droplet digital PCR (ddPCR) assay. A total of 80 patients underwent surgery, and histology revealed 25 patients to have PTC. Of the 25 PTCs, 23 (92%) showed a BRAF V600E-mutation. Both mutation analysis methods (PCR/Qiaxcel and ddPCR) produced concordant results. In the ultrasound-guided group, the preoperative diagnostic sensitivity of FNAC using the Bethesda classification alone was very high and additional BRAF V600E-mutation analysis added little to the preoperative diagnostic sensitivity. By contrast, in the palpation-guided group, by adding BRAF V600E-mutation analysis, eight instead of four patients were diagnosed of having PTC. This increase in the diagnostic sensitivity was statistically significant (p < 0.05). The costs per sample were as low as 62 USD (PCR/Qiaxcel and ddPCR) and 35 USD (PCR/Qiaxcel only). Ultrasound-guided FNAC should be aimed for when dealing with thyroid nodules. However, if palpation-guided FNAC cannot be avoided or may be required due to resource utilization, adding BRAF V600E-mutation analysis using the methods described in this study might significantly increase the proportion of preoperatively diagnosed PTCs. The additional costs can be considered very reasonable.", "doi": "10.1002/cjp2.231", "pmid": "34156770", "labels": {"Clinical Genomics Link\u00f6ping": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC8503891"}], "notes": [], "created": "2021-12-09T13:00:37.181Z", "modified": "2021-12-09T13:01:07.696Z"}