Correlation Between Histological Diagnosis and Mutational Panel Testing of Thyroid Nodules: A Two-Year Institutional Experience

التفاصيل البيبلوغرافية
العنوان: Correlation Between Histological Diagnosis and Mutational Panel Testing of Thyroid Nodules: A Two-Year Institutional Experience
المؤلفون: Lynn A. Burmeister, Maria Evasovich, Maryam Shahi, Khalid Amin, Angela Radulescu, T. Sanghvi, Rupendra T. Shrestha, Andrew C. Nelson
المصدر: Thyroid. 26:1068-1076
بيانات النشر: Mary Ann Liebert Inc, 2016.
سنة النشر: 2016
مصطلحات موضوعية: Adult, Male, Thyroid nodules, medicine.medical_specialty, Cytodiagnosis, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Biopsy, Fine-Needle, DNA Mutational Analysis, 030209 endocrinology & metabolism, Malignancy, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Adenocarcinoma, Follicular, Biopsy, medicine, Atypia, Humans, Thyroid Neoplasms, Thyroid Nodule, skin and connective tissue diseases, neoplasms, Aged, Retrospective Studies, medicine.diagnostic_test, business.industry, Thyroid, Thyroidectomy, Retrospective cohort study, Thyroid Cancer and Nodules, Middle Aged, medicine.disease, body regions, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Female, Radiology, business
الوصف: Indeterminate thyroid fine-needle aspiration (FNA) cytology, including atypia of undetermined significance (AUS/FLUS) and suspicious for follicular neoplasm (SFN), continues to generate uncertainty about the presence of malignancy, resulting in repeated follow-up, repeat FNA, or diagnostic surgery. Mutational panel testing may improve the malignancy risk prediction in indeterminate nodules, but the general application of such testing has not been investigated extensively.A retrospective review was performed of all patients undergoing thyroidectomy at a tertiary care facility over a two-year period. Mutational panel test results, when present, were analyzed relative to FNA cytologic result and surgical histopathologic diagnosis. Malignancy rates, sensitivity, specificity, positive predictive values (PPV), negative predictive values (NPV) and positive and negative likelihood ratios (LR) were calculated.A total of 261 operated thyroid nodules had the following initial FNA cytology results: 2% non-diagnostic, 23% benign, 28% AUS/FLUS, 11% SFN, 9% suspicious for malignancy (SUSP), and 27% malignant. The histopathologic malignancy rate was 48%, subcategorized by cytology into benign 7%, AUS/FLUS 30%, SFN 38%, and SUSP 83%. Mutations were more frequent in indeterminate nodules that were histologically malignant versus benign (p 0.0001) or versus adenoma (p = 0.001). Mutational analysis in 44 AUS/FLUS nodules resulted in a malignancy detection sensitivity of 85%, a specificity of 65%, a PPV of 50%, a NPV of 91%, and a positive LR of 2.4. In 12 SFN nodules analyzed with ThyroSeq(®) testing, sensitivity was 100%, specificity 57%, PPV 63%, NPV 100%, and LR 2.3. Performance of the seven-gene mutational panel was not significantly different from the ThyroSeq(®) panel in the AUS/FLUS group. The malignancy yield, comparing the mutation positive AUS/FLUS group with the untested AUS/FLUS surgical cohort, did not reach statistical significance (p = 0.17).In a surgical cohort, a similar NPV but a lower PPV was found with the use of mutational panel testing compared to the published literature. Following the identification of a mutation, the prevalence of malignancy in the AUS/FLUS or SFN category was increased by nearly 15% to 45% and 53%, respectively. Further study is needed to confirm these results and to analyze clinical outcome subcategories relative to the utility of mutational testing.
تدمد: 1557-9077
1050-7256
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd16b6fab4e5483cc90041488c99b30Test
https://doi.org/10.1089/thy.2016.0048Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....2bd16b6fab4e5483cc90041488c99b30
قاعدة البيانات: OpenAIRE