Evidence map›Paper›PMID 39397516›Full record

ArticleEndocrinology and metabolism (Seoul, Korea)2024

Small Multi-Gene DNA Panel Can Aid in Reducing the Surgical Resection Rate and Predicting the Malignancy Risk of Thyroid Nodules.

Moon Young Oh, Hye-Mi Choi, Jinsun Jang, Heejun Son, Seung Shin Park, Minchul Song, Yoo Hyung Kim, Sun Wook Cho, Young Jun Chai, Woosung Chung and 1 more

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Article in Endocrinology and metabolism (Seoul, Korea), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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4citing papers in PubMed
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3 · Its place in the literature

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4 citing papers in PubMed.

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5 · Who and what money

Authors and funding

11 authors.

Moon Young OhDepartment of Surgery, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea.
Hye-Mi ChoiDCGen Co. Ltd., Seoul, Korea.
Jinsun JangDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Heejun SonDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Seung Shin ParkDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Minchul SongDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Yoo Hyung KimDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Sun Wook ChoDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Young Jun ChaiDepartment of Surgery, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea.
Woosung ChungDCGen Co. Ltd., Seoul, Korea.
Young Joo ParkDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Funding

Ministry of Education 5120200513755Ministry of ScienceMinistry of SMEs and Startups RS-2023-00224272National Research Foundation of Korea 2019R1A2C2084332National Research Foundation of Korea 5120200513755Seoul National University Hospital 0620204930
6 · The paper itself

Abstract

backgruoundWe explored the utility of a small multi-gene DNA panel for assessing molecular profiles of thyroid nodules and influencing clinical decisions by comparing outcomes between tested and untested nodules.

methodsBetween April 2022 and May 2023, we prospectively performed fine-needle aspiration (FNA) with gene testing via DNA panel of 11 genes (BRAF, RAS [NRAS, HRAS, KRAS], EZH1, DICER1, EIF1AX, PTEN, TP53, PIK3CA, TERT promoter) in 278 consecutive nodules (panel group). Propensity score-matching (1:1) was performed with 475 nodules that consecutively underwent FNA without gene testing between January 2021 and December 2021 (control group).

resultsIn the panel group, positive call rate for mutations was 41.7% (BRAF 16.2%, RAS 12.6%, others 11.5%, double mutation 1.4%) for all nodules, and 40.0% (BRAF 4.3%, RAS 19.1%, others 15.7%, double mutation 0.9%) for indeterminate nodules. Benign call rate was 69.8% for all nodules, and 75.7% for indeterminate nodules. In four nodules, additional TP53 (in addition to BRAF or EZH1) or PIK3CA (in addition to BRAF or TERT) mutations were co-detected. Sensitivity, specificity, positive predictive value, and negative predictive value were 80.0%, 53.3%, 88.1%, 38.1% for all nodules, and 78.6%, 45.5%, 64.7%, 62.5% for indeterminate nodules, respectively. Panel group exhibited lower surgical resection rates than the control group for all nodules (27.0% vs. 52.5%, P<0.001), and indeterminate nodules (23.5% vs. 68.2%, P<0.001). Malignancy risk was significantly different between the panel and control groups (81.5% vs. 63.9%, P=0.008) for all nodules.

conclusionOur panel aids in managing thyroid nodules by providing information on malignancy risk based on mutations, potentially reducing unnecessary surgery in benign nodules or patients with less aggressive malignancies.

Indexed as

MutationThyroid NoduleAdultAgedBiomarkers, TumorBiopsy, Fine-NeedleFemaleGenetic TestingHumansMaleMiddle AgedPrognosisProspective StudiesThyroid NeoplasmsBiomarkers, TumorGene panelIndeterminate nodulesMalignancy riskResection rateThyroid nodule

Identifiers

PMID39397516
PMCPMC11525692

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.