Moving towards a local testing solution for undetermined thyroid fine-needle aspirates: validation of a novel custom DNA-based NGS panel

2021 ◽  
pp. jclinpath-2021-207429
Author(s):  
Roberta Sgariglia ◽  
Mariantonia Nacchio ◽  
Ilaria Migliatico ◽  
Elena Vigliar ◽  
Umberto Malapelle ◽  
...  
Keyword(s):  
Local Level ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Health Coverage ◽  
Fine Needle ◽  
Fine Needle Aspirates ◽  
Gene Test ◽  
Thyroid Fine Needle Aspiration ◽  
Thyroid Fna ◽  
Prohibitive Cost

AimsIn thyroid cytopathology, the undetermined diagnostic categories still pose diagnostic challenges. Although next-generation sequencing (NGS) is a promising technique for the molecular testing of thyroid fine-needle aspiration (FNA) specimens, access to such technology can be difficult because of its prohibitive cost and lack of reimbursement in countries with universal health coverage. To overcome these issues, we developed and validated a novel custom NGS panel, Nexthyro, specifically designed to target 264 clinically relevant mutations involved in thyroid tumourigenesis. Moreover, in this study, we compared its analytical performance with that of our previous molecular testing strategy.MethodsThe panel, which includes 15 genes (BRAF, EIF1AX, GNAS, HRAS, IDH1, KRAS, NF2, NRAS, PIK3CA, PPM1D, PTEN, RET, DICER1, CHEK2, TERT promoter), was validated with a cell-line derived reference standard and 72 FNA archival samples previously tested with the 7-gene test.ResultsNexthyro yielded 100% specificity and detected mutant alleles at levels as low as 2%. Moreover, in 5/72 (7%) FNAs, it detected more clinically relevant mutations in BRAF and RAS genes compared with the 7-gene test. Nexthyro also revealed better postsequencing metrics than the previously adopted commercial ‘generic’ NGS panel.ConclusionOur comparative analysis indicates that Nexthyro is a reliable NGS panel. The study also implies that a custom-based solution for routine thyroid FNA is sustainable at the local level, allowing patients with undetermined thyroid nodules affordable access to NGS.

scholarly journals Molecular Testing of Thyroid Fine-Needle Aspiration: Local Issues and Solutions. An Interventional Cytopathologist Perspective

2021 ◽  
Vol 2 (3) ◽  
pp. 233-240
Author(s):  
Claudio Bellevicine ◽  
Roberta Sgariglia ◽  
Mariantonia Nacchio ◽  
Caterina De Luca ◽  
Pasquale Pisapia ◽  
...  
Keyword(s):  
Fine Needle Aspiration ◽  
The United States ◽  
Needle Aspiration ◽  
Molecular Techniques ◽  
Molecular Testing ◽  
Fine Needle ◽  
Relevant Role ◽  
Thyroid Fine Needle Aspiration ◽  
Prognostic Stratification ◽  
Thyroid Fna

Molecular testing has acquired a relevant role for diagnostic and prognostic stratification of indeterminate thyroid nodules. Besides the available commercial solutions marketed in the United States, various local testing strategies have been developed in the last decade. In this setting, the modern interventional cytopathologist, the physician who performs the both aspirate and the morphologic interpretation plays a key role in the correct handling of fine-needle aspiration (FNA) samples not only for microscopy but also for molecular techniques. This review summarizes experiences with local approaches to the molecular testing of thyroid FNA, highlighting the role of the modern interventional cytopathologist.

scholarly journals Trends in Thyroid Fine-Needle Aspiration Cytology Practices: Results From a College of American Pathologists 2016 Practice Survey

2019 ◽  
Vol 143 (11) ◽  
pp. 1364-1372 ◽  
Author(s):  
Daniel D. Mais ◽  
Barbara A. Crothers ◽  
Diane Davis Davey ◽  
Kristen E. Natale ◽  
Ritu Nayar ◽  
...  
Keyword(s):  
Fine Needle Aspiration ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Fine Needle ◽  
Thyroid Cytology ◽  
Molecular Tests ◽  
Thyroid Fine Needle Aspiration ◽  
Thyroid Fna

Context.— The College of American Pathologists periodically surveys laboratories to determine changes in cytopathology practices. We report the results of a 2016 survey concerning thyroid fine-needle aspiration (FNA). Objective.— To provide a cross-sectional survey of thyroid cytology practices in 2016. Design.— In 2016, a survey was sent to 2013 laboratories participating in the College of American Pathologists Non-Gynecologic Cytology Education Program (NGC-A) requesting data from 2015–2016 on several topics relating to thyroid FNA. Results.— A total of 878 laboratories (43.6% of 2013) replied to the survey. Radiologists performed the most thyroid FNA procedures in most laboratories (70%; 529 of 756), followed by endocrinologists (18.7%; 141 of 756), and most of these were performed under ultrasound guidance (92.1%; 699 of 759). A total of 32.6% of respondents (251 of 769) provided feedback on unsatisfactory rates for nonpathology providers who performed FNA. Intraprocedural adequacy assessment was primarily performed by attending pathologists (77.4%; 490 of 633) or cytotechnologists (28.4%; 180 of 633). Most laboratories used the Bethesda System for Reporting Thyroid Cytopathology (89.8%; 701 of 781) and performed molecular testing based on clinician request (68.1%; 184 of 270) rather than FNA diagnosis. Correlation of thyroid excisions with prior cytology results most often occurred retrospectively (38.4%; 283 of 737) and was used for pathologist interpretive quality assurance purposes. Conclusions.— These survey results offer a snapshot of national thyroid FNA cytology practices in 2016 and indicate that standardized cytology terminology is commonly used; pathologists perform most immediate adequacy assessments for thyroid FNA; laboratories use correlation statistics to evaluate pathologists' performance; and molecular tests are increasingly requested for indeterminate interpretations, but reflex molecular testing is rare.

scholarly journals The Role of Molecular Testing for the Indeterminate Thyroid FNA

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 736 ◽  
Author(s):  
Esther Diana Rossi ◽  
Liron Pantanowitz ◽  
William C. Faquin
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Adult Population ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
American Thyroid Association ◽  
Cytological Diagnosis ◽  
Fine Needle ◽  
Thyroid Fna

Thyroid nodules are common in the adult population where a majority are benign and only 4.0% to 6.5% are malignant. Fine needle aspiration (FNA) is a key method used in the early stages to evaluate and triage patients with thyroid nodules. While a definitive cytological diagnosis is provided in more than 70–75% of all thyroid FNA cases, the group of indeterminate lesions offers a challenge in terms of interpretation and clinical management. Molecular testing platforms have been developed, are recognized as an option by the 2015 American Thyroid Association Guidelines, and are frequently used in conjunction with FNA as an integral part of the cytologic evaluation. In this review, the utility of molecular testing options for nodules assigned to the group of indeterminate thyroid FNAs is described.

Cytotechnologist Performance for Screening Hürthle Cell Atypia in Indeterminate Thyroid Fine-Needle Aspirates

2015 ◽  
Vol 59 (5) ◽  
pp. 377-383 ◽  
Author(s):  
Christopher J. VandenBussche ◽  
Christina Adams ◽  
Syed Z. Ali ◽  
Matthew T. Olson
Keyword(s):  
Diagnostic Errors ◽  
Needle Aspiration ◽  
Fine Needle ◽  
Fine Needle Aspirates ◽  
Hürthle Cell ◽  
Thyroid Fine Needle Aspiration ◽  
Hurthle Cells ◽  
Hürthle Cells ◽  
Almost All ◽  
Cell Atypia

Objectives: We have previously shown that specimens diagnosed as containing Hürthle cells have a 12% chance of being malignant if they are classified as atypia of undetermined significance (AUS-HC). The identification of Hürthle cells by cytotechnologists (CTs) during screening can improve cytopathologist efficiency and may prevent diagnostic errors due to the oversights of focal findings. Here, we examine the performance of our institutional CTs when screening for Hürthle cell atypia in thyroid fine-needle aspiration (FNA) specimens. Study Design: Information on 8,814 thyroid cytopathology specimens was retrieved for a 10-year period. Specimens were screened by 1 of 11 CTs. A subsample of cases was categorized either as AUS-HC or suspicious for Hürthle cell neoplasm. Results: AUS-HC screening diagnoses were more likely to be downgraded to benign but less likely to be upgraded compared to AUS diagnoses with nuclear or microfollicular atypia. AUS-HC represents almost all papillary thyroid carcinoma (PTC) screening diagnoses downgraded to the AUS category, which suggests that even low levels of Hürthle cell atypia can result in PTC being included in the differential diagnosis. Conclusion: Overall, there are few major discrepancies between CT and pathologist diagnoses for specimens containing Hürthle cell atypia.

scholarly journals Impact of Molecular Testing in the Diagnosis of Thyroid Fine Needle Aspiration Cytology: Data from Mainland China

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Hui-qin Guo ◽  
Huan Zhao ◽  
Zhi-hui Zhang ◽  
Yan-li Zhu ◽  
Ting Xiao ◽  
...  
Keyword(s):  
Fine Needle Aspiration ◽  
Fine Needle Aspiration Cytology ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Benign Lesions ◽  
Aspiration Cytology ◽  
Fine Needle ◽  
Thyroid Fine Needle Aspiration ◽  
Needle Aspiration Cytology

Background. The molecular work-up of thyroid nodules from fine needle aspiration samples has given clinicians a new level of diagnostic information. The aim of the present study was to evaluate the utility of molecular analysis in thyroid fine needle aspiration samples from a Chinese population.Methods. Specimens were collected from thyroid nodules by fine needle aspiration. Cytology diagnosis and genes analysis were performed and correlated with histology outcome.Results. A total of 83 patients with thyroid nodules were enrolled, including 20 benign lesions and 63 papillary carcinomas. BRAF and RAS mutations and RET/PTC gene rearrangements were found in 65.1%, 0%, and 1.6% of papillary carcinomas, respectively. No gene alterations were found in benign lesions. The combination of BRAF testing and cytology improved the accuracy of cytology from 69.9% to 89.2%(P<0.05). Moreover, BRAF testing confirmed 82.4% of papillary carcinomas with suspicious cytology and identified 33.3% of papillary carcinomas with atypia cytology.Conclusions. Of the three candidate markers, BRAF testing showed diagnostic utility in fine needle aspiration. Combining BRAF testing with cytology improves the accuracy of fine needle biopsy. Those who have positive BRAF and malignant or suspicious malignant cytology can undergo thyroidectomy without a frozen section.

scholarly journals MON-479 Acute Thyroid Edema: A Rare Complication of Thyroid Fine Needle Aspiration

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Rachael Bree Hosein ◽  
Neel L Shah ◽  
Marc Cillo
Keyword(s):  
Thyroid Gland ◽  
Neck Pain ◽  
Fine Needle Aspiration ◽  
Rare Complication ◽  
Needle Aspiration ◽  
Fine Needle ◽  
Thyroid Fine Needle Aspiration ◽  
Thyroid Swelling ◽  
Thyroid Fna ◽  
Thyroid Parenchyma

Abstract Background: Acute thyroid swelling is a rare complication of thyroid fine needle aspiration (FNA). The first documented case was in 1982 and to date there are less than 20 cases currently reported in the literature (1). Case Presentation: A 66-year-old female with a history of non-ischemic cardiomyopathy and heart failure was admitted to hospital to expedite heart transplant evaluation. A neck ultrasound was performed due to voice hoarseness and concern for vocal cord nodules. The ultrasound showed a 1.3 cm hypoechoic nodule in the right thyroid lobe. Given that the nodule had irregular borders and microcalcifications, a thyroid FNA was recommended. The patient’s home warfarin had been held for at least three days prior to the biopsy and her INR on the procedure date was 1.4. Her heparin drip was held four hours prior to the thyroid FNA. Immediately following the procedure, a 3.2 cm hematoma formed inferior to the thyroid gland. The heparin drip was restarted 6 hours post-FNA as per radiology’s recommendation. Cytology of the nodule was benign. The patient recovered well post FNA and improvement in the hematoma was noted on exam. Her hemoglobin was stable and she was restarted on warfarin. On day two post thyroid FNA, she reported significant neck pain, with no corresponding increase in the extra-thyroidal hematoma. No stridor or other concerning features were present on exam. A repeat thyroid ultrasound was performed three days after the FNA. It demonstrated fluid filled ‘cracks’ within the thyroid parenchyma and tripling in the volume of the thyroid gland, concerning for diffuse edema. No heterogeneity or subcapsular thickening was seen to suggest hemorrhage, and the previously demonstrated 3.2 cm extra-thyroidal hematoma was not visualized. She was treated with ibuprofen 800 mg and prednisone 30 mg, and noted an improvement in her neck pain with these measures. A repeat ultrasound done three weeks after initial thyroid FNA showed marked improvement of the diffuse swelling. Conclusion: The phenomenon of diffuse thyroid edema after fine need aspiration has been termed acute thyroid swelling (ATS). Given how frequently thyroid fine needle aspirations are performed, ATS appears to be a very rare complication. The etiology of ATS remains unknown, but the use of blood thinners, such as in our patient, does not appear to be a risk factor (1). The radiological appearance of fluid filled ‘cracks’ within the thyroid parenchyma suggests a more diffuse process, rather than a localized reaction. While NSAIDs or steroids may help with symptoms, patients appear to improve irrespective of whether or not medications are given. This suggests that ATS is a self-limiting condition without long term complications. Reference: (1) Polyzos SA, Anastasilakis AD, Arsos. Acute transient thyroid swelling following needle biopsy: An update. Hormones. 2012;11(2);147-150

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