An academic community hospital experience using commercially available molecular testing in the management of indeterminate thyroid nodules

Young, Nancy A.; Win, Kay; Pomo, Lauren; Anastasopoulou, Catherine; Minimo, Corrado; Mayrin, Jane

doi:10.1016/j.jasc.2017.09.001

Cited by 5 publications

(6 citation statements)

References 10 publications

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“…As in previous reports, RAS was the most frequent mutation identified in the indeterminate nodules in this study, and was not specifically associated with malignant or potentially malignant outcomes [20][21][22]. Another false positive molecular result in our study was the mutation of PTEN.…”

Section: Discussionsupporting

confidence: 70%

Risk Stratification Study of Indeterminate Thyroid Nodules with a next-generation Sequencing Assay with Residual ThinPrep® Material

Zhao¹,

Jing²,

Li³

et al. 2020

J. Cancer

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Objective: The management of indeterminate thyroid nodules is challenging. Molecular testing has emerged as a promising method for stratifying this gray area of fine-needle aspiration (FNA) cytology. Next-generation sequencing (NGS) can be used to test a large variety of genetic changes with very small amounts of nucleic acids obtained from FNA samples. Methods: Thyroid FNA assays were classified according to the Bethesda System for Reporting Thyroid Cytopathology after routine ThinPrep® slide preparation. Indeterminate nodules with surgical outcomes were assayed with an 18-gene NGS panel with the residual ThinPrep® material, including nodules categorized as atypia of undetermined significance (AUS)/follicular lesions of undetermined significance (FLUS) or follicular neoplasm (FN)/suspicious for a follicular neoplasm (SFN). We evaluated the diagnostic efficacy of the 18-gene panel for thyroid malignancies and potential malignancies and compared it with a well-accepted examination, ThyroSeq v2 testing. Results: A total of 36 indeterminate nodules were assayed, seven were categorized as AUS/FLUS and 29 as FN/SFN. All of them had adequate DNA for the NGS procedure. When noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was considered malignant, the risk of malignancy was 71.4% for AUS/FLUS nodules, and 69.0%for FN/SFN nodules. The 18-gene panel showed 72.0% sensitivity, 72.7% specificity, 85.7% positive predictive value (PPV), and 53.3% negative predictive value (NPV) in identifying malignancies and potential malignancies in the indeterminate nodules. Compared with a multicenter report from ThyroSeq v2 testing, 18-gene panel showed a lower NPV (p=0.005), but a higher PPV (p=0.02). Conclusions: NGS assays are feasible on residual ThinPrep® material, with the advantage of not requiring additional FNA procedure. The 18-gene panel testing can be used as a 'rule in' test for surgical management based on indeterminate nodules and showed a lower NPV but a higher PPV compared to ThyroSeq v2 testing.

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Section: Discussionsupporting

confidence: 70%

Risk Stratification Study of Indeterminate Thyroid Nodules with a next-generation Sequencing Assay with Residual ThinPrep® Material

Zhao¹,

Jing²,

Li³

et al. 2020

J. Cancer

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“…In our retrospective analysis of 416 thyroid nodules that underwent GEC molecular marker testing at our institution between June 2011 and August 2015, we found that this test yielded a negative predictive value of 90%. This number is slightly lower than reported in the initial validation study 3 and at other institutions 5–30 . Our large population of high‐risk patients leads to a high pretest probability of malignancy, which may have contributed to our lower negative predictive value.…”

Section: Discussionmentioning

confidence: 60%

“…This number is slightly lower than reported in the initial validation study 3 and at other institutions. 5-30 Our large population of high-risk patients leads to a high pretest probability of malignancy, which may have contributed to our lower negative predictive value. The prevalence of thyroid malignancy in patients with thyroid nodules with indeterminate cytology at our institution during this timeframe was 41%, thus lowering our negative predictive value.…”

Section: Discussionmentioning

confidence: 97%

“…The rate of surgical resection in “benign” GEC results was 24% at our institution, one of the highest reported in the literature. 5-18,20-22,24-31,33,34 The main reason for surgery in this category was the presence of a concomitant nodule having a “suspicious” GEC result, and thus, there was a high rate of total thyroidectomies in this group. In the cases that underwent surgery for other reasons such as the presence of compressive symptoms, molecular marker testing did not add value to the therapeutic decision making.…”

Section: Discussionmentioning

confidence: 99%

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Long‐Term Outcomes of Thyroid Nodule AFIRMA GEC Testing and Literature Review: An Institutional Experience

Vora

Holt

Haque³

et al. 2020

Otolaryngol.--head neck surg.

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Objective To assess outcomes of thyroid nodules analyzed with the AFIRMA gene expression classifier (GEC) and to perform a comprehensive literature review. Study Design Retrospective analysis of patients with thyroid nodules who underwent AFIRMA GEC testing at our institution. Settings A tertiary care academic institution. Subjects and Methods We collected clinical outcomes for 416 thyroid nodules that were analyzed with AFIRMA GEC between 2011 and 2015, including long-term follow-up through 2019. We performed a comprehensive literature review. Results The resection rate for nodules with “suspicious” GEC results was 85% with a positive predictive value of 37%. The resection rate for nodules with “benign” GEC results was 24% with a negative predictive value of 90%. The prevalence of thyroid malignancy in patients with thyroid nodules with indeterminate cytology at our institution during this timeframe was 41%, thus lowering our negative predictive value. Mean follow-up duration for unresected nodules was 27.8 months. Our resection rates for nodules with “benign” GEC were among the highest reported in the literature. Conclusions Molecular marker testing of thyroid nodules with indeterminate cytology can aid in the surgical decision making by obviating the need for diagnostic surgery and/or guiding extent of resection. Patients with other indications for surgery may not benefit from such costly testing.

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“…Similarly, the RosettaGX Reveal TM assays 24 miRNAs and is also designed to stratify indeterminate thyroid nodules as benign or suspicious for malignancy by using a single FNA stained smear (32). Although quality assurance review of the commercially available tests cannot be underemphasized, only few literature reports assessed the performance of such tests (33). More recently, in a validation study of a new miRNA-based thyroid molecular classifier test (mir-THYpe) based on the expression of 96 miRNA candidates using FNA smear slides, a performance comparison with other five molecular classifiers was done (34).…”

Section: Contribution Of Epigenetic To Cytology Diagnostic Challengesmentioning

confidence: 99%

Translational Potential of Epigenetic-Based Markers on Fine-Needle Aspiration Thyroid Specimens

et al. 2021

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The awareness of epigenetic alterations leading to neoplasia attracted the attention of researchers toward its potential use in the management of cancer, from diagnosis to prognosis and prediction of response to therapies. Our group has focused its attention on the epigenomics of thyroid neoplasms. Although most of the epigenetic studies have been applied on histological samples, the fact is that cytology, through fine-needle aspiration, is a primary diagnostic method for many pathologies, of which thyroid nodules are one of the most paradigmatic examples. This has led to an increasing literature report of epigenetic studies using these biological samples over the past decade. In this review, our group aimed to document recent research of epigenetic alterations and its associated assessment techniques, based on cytology material. Our review covers the main epigenetic categories—DNA methylation, histone modification, and RNA-silencing—whose evidence in thyroid cytology samples may represent solid soil for future prospectively designed studies aiming at validating patterns of epigenetic alterations and their potential use in the clinical management of thyroid neoplasms.

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An academic community hospital experience using commercially available molecular testing in the management of indeterminate thyroid nodules

Cited by 5 publications

References 10 publications

Risk Stratification Study of Indeterminate Thyroid Nodules with a next-generation Sequencing Assay with Residual ThinPrep® Material

Risk Stratification Study of Indeterminate Thyroid Nodules with a next-generation Sequencing Assay with Residual ThinPrep® Material

Long‐Term Outcomes of Thyroid Nodule AFIRMA GEC Testing and Literature Review: An Institutional Experience

Translational Potential of Epigenetic-Based Markers on Fine-Needle Aspiration Thyroid Specimens

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