Molecular Testing of Thyroid Nodules: A Review of Current Available Tests for Fine-Needle Aspiration Specimens

Zhang, Ming; Lin, Oscar

doi:10.5858/arpa.2016-0100-ra

Cited by 100 publications

(176 citation statements)

References 49 publications

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“…With the use of MMTs, 34 (51%) patients out of 66 were spared unnecessary thyroidectomy. The Afirma GEC test, offers a high negative predictive value (NPV) and relatively low positive predictive value (PPV) [11]. In our study the predicting results of Afirma test and final surgery was roughly the same as previous literature.…”

Section: Discussionsupporting

confidence: 84%

“…In our study the predicting results of Afirma test and final surgery was roughly the same as previous literature. Thyroseq V2 offers high NPV and PPV due to the ability to check many of the genetic markers and point mutations [11,12]. In our study we had 5/7 true positive results which was almost the same as the promised PPV of the test.…”

Section: Discussionsupporting

confidence: 55%

“…Afirma Gene Expression Classifier(GEC) is a test based on microarray technology used to analyze the mRNA expression of 167 different genes that is based on the gene expression identified from FNAs of surgically proven benign and malignant thyroid nodules and was validated in double blinded studies [10]. With Negative predictive value of (92-95%) and positive predictive value of 37-38%, Afirma is mainly considered as "rule out" test [11]. ThyroSeq v2 is the enhanced version of ThyroSeq that was introduced in 2014 which can correctly detects 12 cancer genes with 284 mutational hot spots previously found positive in thyroid tumor samples and cell lines [11].…”

Section: Introductionmentioning

confidence: 99%

“…With Negative predictive value of (92-95%) and positive predictive value of 37-38%, Afirma is mainly considered as "rule out" test [11]. ThyroSeq v2 is the enhanced version of ThyroSeq that was introduced in 2014 which can correctly detects 12 cancer genes with 284 mutational hot spots previously found positive in thyroid tumor samples and cell lines [11]. ThyroSeq V2 accurately detect both malignant and benign samples.…”

Section: Introductionmentioning

confidence: 99%

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2017

MOJWH

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Design: In a retrospective study at Queens Hospital Center, medical records of 1010 patients with thyroid nodule over a five year period (Jan 2012-Dec 2016) was studied and rates of malignancy, molecular marker test (MMT) results, and number of cases of averted thyroidectomy were calculated. Results:Total of 151 patients were found to have indeterminate FNA cytology results; 85 patients had no MMTs, 38 had results from Thyroseqv2, and 28 had results from Afirma. Out of 85 patients with no MMT, 42 patients (49%) had a thyroidectomy which 9 (21%) had thyroid cancer and 33 (79%) had benign pathology. Seven patients with a positive Thyroseqv2 mutational panel had a thyroidectomy and of these, 5 (71%) were found malignant. 3 patients with negative Thyroseqv2 had a thyroidectomy due to nodule growth, and one had malignancy. With the use of Thyroseqv2, 22 patients out of 38 (57%) were spared unnecessary thyroidectomy. Of 28 patients who had Afirma results, 16(57%) had a suspicious gene expression classifier (GEC). Among 16 patients with a suspicious GEC, 11 had a thyroidectomy and 4 (36%) had cancer. GEC testing was able to spare 12 patients (42%) from thyroidectomy. Conclusions:Using MMTs, 34 (51%) patients out of 66 were spared unnecessary thyroidectomy. Due to a rather small sample size, statistical accuracy of MMTs has not been reported. Based on review of the literature, MMTs are very helpful in further analyzing indeterminate nodules and prevents unnecessary surgery given negative (both Thyroseqv2 and Afirma) and positive (Thyroseqv2) predictive values.

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Section: Discussionsupporting

confidence: 84%

Section: Discussionsupporting

confidence: 55%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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2017

MOJWH

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“…Several available commercial molecular tests have been shown to be effective for risk stratification in indeterminate thyroid FNAs [18] . In our series, 3 cases with AUS diagnosis underwent Afirma GEC testing, and all showed a "suspicious" result.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Accuracy of Fine Needle Aspiration in Thyroid Nodules Arising in Patients with Graves Disease

Hang

Lilo²,

Bishop³

et al. 2017

Acta Cytologica

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Objective: Cytopathologic interpretation in Graves disease (GD) is considered challenging due to significant cellular atypia. Study Design: We retrospectively identified 55 fine needle aspirations (FNAs) from 43 patients with GD that subsequently underwent thyroidectomy from 1995 to 2016. Results: There were 5 patients with papillary thyroid carcinoma (PTC) and 4 with follicular adenoma (FA). Of the 5 patients with PTC, FNA was interpreted as PTC in 3, atypia of undetermined significance (AUS) in 1, and adenomatoid nodule (AN) in 1 (with a 0.5-cm incidental microcarcinoma). Of the 4 patients with FA, FNA was interpreted as follicular neoplasm (FN) in 2, AUS in 1, and AN in 1. Of the 46 nonneoplastic nodules, FNA was interpreted as nondiagnostic in 2, benign in 26, AUS in 15, FN in 1, and suspicious for PTC in 2. None was diagnosed as malignant. The sensitivity, specificity, positive predictive value, and negative predictive value of PTC diagnosis in FNA were 60, 100, 100, and 96.2%, respectively. Conclusion: FNA is a useful tool for identifying neoplastic nodules arising in GD. However, cytologic atypia often leads to indeterminate diagnoses (18/46, 39.1%). Awareness of clinical information regarding prior treatment for GD may be helpful to avoid overinterpretation.

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The gray zone of thyroid nodules: Using a nomogram to provide malignancy risk assessment and guide patient management

2021

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Background Thyroid nodules have a low prevalence of malignancy and most proven cancers do not behave aggressively. Thus, risk‐stratification of nodules is a critical step to avoid surgical overtreatment. We hypothesized that a risk management system superior to those currently in use could be created to reduce the number of clinically indeterminate nodules (i.e., the “gray zone”) by concurrently considering the malignancy risks conferred by clinical, ultrasonographic, and cytologic variables. Methods Thyroidectomy cases were reviewed from three institutions. Their benign versus malignant outcome was used to evaluate the variables for correlation. A binary logistic regression model was trained and, using indeterminate nodules with Bethesda III and IV results, validated. A scoring nomogram was designed to demonstrate the application of the model in clinical practice. Results One hundred thirty thyroidectomies (28% malignant) met inclusion criteria. The final logistic regression model included difficulty in swallowing, hypothyroidism, echogenicity, hypervascularity, margins, calcification, and cytology diagnosis as input parameters. The model was highly successful in determining the outcome (p value: 0.001) with a R2(Nagelkerke) score of 0.93. The area under the curve as determined by receiver operating characteristics was 0.91. The accuracy of the model on the training dataset was 93% (sensitivity and specificity 92% and 96%, respectively) and, on the validation dataset, 80% (sensitivity and specificity 91% and 67%, respectively). Conclusions We report a model for risk assessment of thyroid nodules that has the potential to significantly reduce indeterminates and surgical overtreatment. We illustrate its application via a straightforward nomogram, which integrates clinical, ultrasonographic, and cytologic data, and can be used to create clear, evidence‐based management plans for patients.

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Molecular Testing of Thyroid Nodules: A Review of Current Available Tests for Fine-Needle Aspiration Specimens

Cited by 100 publications

References 49 publications

Untitled

Untitled

Diagnostic Accuracy of Fine Needle Aspiration in Thyroid Nodules Arising in Patients with Graves Disease

The gray zone of thyroid nodules: Using a nomogram to provide malignancy risk assessment and guide patient management

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