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Comprehensive Thyroid Cancer Testing

Comprehensive Thyroid Cancer Testing

Test Guide

Comprehensive Thyroid Cancer Testing

  

About 5% to 15% of thyroid nodules detected in the United States are malignant.1 Accurate diagnosis is essential to avoid unnecessary thyroid surgery for benign disease and to select the most appropriate treatment option for cancerous nodules. This Test Guide outlines laboratory tests useful in the diagnosis and monitoring of patients with thyroid nodule(s).

Molecular tests are relatively new tools for further assessing nodules with atypical, suspicious, or indeterminate fine needle aspiration (FNA) cytology results (Figure 1, Table1). Integration of cytology and molecular results can improve diagnosis and treatment of thyroid neoplasms (Figure 2). These tests can detect molecular alterations involved in the pathogenesis of thyroid cancer. Nodules with indeterminate cytology lacking these alterations are less likely to be malignant (6% to 28% risk).1 On the other hand, more than 70% of papillary thyroid carcinomas (PTCs) harbor a point mutation in BRAF or RAS or a RET/PTC rearrangement,6 and >70% of follicular thyroid carcinomas (FTCs) harbor either RAS mutations or PAX8/PPARγ rearrangements.6 However, RAS mutations may also be found in benign thyroid lesions. In addition, sporadic and hereditary medullary thyroid carcinoma (MTC) are associated with point mutations in the RET gene. Thus, mutation testing can improve the accuracy of thyroid cancer diagnosis and foster individualized patient management.6,7

A MTC diagnosis should be followed by additional testing to rule out hereditary multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. Testing for RET mutations as well as comorbid conditions including pheochromocytoma and primary hyperparathyroidism is appropriate for this purpose (Figure 3, Table 2).5

Monitoring of serum thyroglobulin (Tg) after thyroid surgery/ablation is a crucial part of follow-up for PTC, FTC, and Hürthle cell carcinoma (Figure 4, Table 3). However, circulating autoantibodies (anti-Tg) render Tg measurements unreliable in 20% to 30% of patients.8 Thus, Quest Diagnostics Tg assessment begins with detection of anti-Tg. In the absence of anti-Tg, Tg is measured using a highly sensitive second-generation immunoassay; when anti-Tg is present, Tg is measured using an LC/MS/MS method that is not affected by anti-Tg. Patients with MTC are monitored to detect residual and recurrent disease using serum calcitonin and carcinoembryonic antigen measurements.

Figure 1. Thyroid Carcinoma Evaluation in a Patient with Known or Suspected Thyroid Nodule(s)

Figure 2. Reflex Testing for PTC or Atypical, Indeterminate, or Suspicious Thyroid Cytology

Figure 3. Rule Out Inherited MTC (MEN2 and FMTC)

Figure 4. Post-thyroid Surgery Monitoring

Tables are provided for informational purposes only and are not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.

Table 1. Evaluation of Thyroid Nodules for Thyroid Carcinoma1,2

Test Code Test Name Method Clinical Use
90819 Thyroid FNA
Cytomorphology Evaluation
Cytomorphology examination Diagnose thyroid cancer
90818 Thyroid FNA
Cytomorphology with Molecular Reflexc
Cytomorphology examination; real-time PCR and sequencing Diagnose thyroid cancer

Refer to Figure 2 for reflexing algorithm

Molecular Alterations
90477 BRAF Mutation Analysis, Papillary Thyroid Cancere Real-time PCR Diagnose papillary thyroid carcinoma; assess prognosis

Includes testing codons 600 and 601.

90474 PAX8/PPAR[gamma] Translocation, Thyroid Cancere Real-time PCR Help distinguish follicular thyroid carcinoma from follicular adenoma
90479 RAS Mutation Analysis, Thyroid Cancere Pyrosequencing Help differentiate follicular neoplasm from PTC

Includes testing codons 12, 13, and 61 of HRAS, KRAS, and NRAS.

90473 RET/PTC Rearrangement, Thyroid Cancere Real-time PCR Diagnose papillary thyroid carcinoma

Includes testing for RET/PTC1 and RET/PTC3.

90469 Thyroid Cancer Mutation Panel (BRAF, RAS, RET/PTC, PAX8/PPAR)e See individual tests Differential diagnosis of thyroid carcinoma in patients with atypical, suspicious for malignancy, or indeterminate FNA results
Serum Testing
899 TSH ICMA Distinguish thyrotoxicosis from neoplasia in patients with thyroid nodule(s); monitor T4-suppressive therapy for thyroid neoplasia
19537 TSH with HAMA Treatment HAMA precipitation followed
by ICMA

FNA, fine needle aspiration; PCR, polymerase chain reaction; TSH, thyroid stimulating hormone; ICMA, immunochemiluminometric assay; RT, room temperature; HAMA, human anti-mouse antibodies.

a Refer to the Quest Diagnostics Directory of Services for complete specimen collection and handling requirements.

b Ship RT: FNA needle washings in alcohol-based fixative (eg, CytoLyt) and 5 alcohol-fixed, unstained slides (4 minimum)

c Reflex tests are performed at an additional charge and are associated with an additional CPT code(s).

d Ship RT: FNA needle washings in alcohol-based fixative (eg, CytoLyt) or formalin-fixed, paraffin-embedded (FFPE) tissue or 4 alcohol-fixed, unstained slides (2 minimum).

e This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test.

Table 2. Additional Laboratory Testing for Medullary Thyroid Carcinoma (MTC) and Related Disorders3,5
Test Code Test Name Method Clinical Use
30742(X) Calcitonin ICMA Monitor MTC for recurrent/residual disease
306 Calcium, Ionized Ion-specific electrode Rule PHPT in or out in patients with MTC
978 Carcinoembryonic Antigen (CEA) ICMA Monitor MTC for recurrent/residual disease
15018 CEA with HAMA Treatment HAMA precipitation followed
by ICMA
36587(X) MEN2 and FMTC Mutations, Exons 10, 11, 13-16a PCR and DNA sequencing Diagnose familial MTC and MEN2 in affected individuals and their family members
19548 Metanephrines, Fractionated, Free, LC/MS/MS, Plasma LC/MS/MS Diagnose or rule out pheochromocytoma in patients with MTC
14962(X) Metanephrines, Fractionated, LC/MS/MS, 24-Hour Urine LC/MS/MS
8837 PTH, Intact and Calcium Immunoassay; spectrometry Diagnose or rule out PHPT in patients with MTC

ICMA, immunochemiluminometric assay; MTC, medullary thyroid carcinoma; PHPT, primary hyperparathyroidism; HAMA, human anti-mouse antibodies; MEN2, multiple endocrine neoplasia type 2; LC/MS/MS, liquid chromatography tandem mass spectrometry; PTH, parathyroid hormone.

a This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test.

Table 3. Post-surgical Monitoring of PTC, FTC, and Hürthle Cell Carcinoma2,3

Test Code Test Name Method Clinical Use
90814 Thyroid Cancer Monitoringa ECL with reflex to LC/MS/MS
or ICMA
Monitor patients for recurrent/persistent disease
Includes thyroglobulin antibody and reflex to thyroglobulin using either LC/MS/MS or ICMA (Second Generation, Beckman Coulter)
30278 Thyroglobulin Panel ICMA Monitor patients for recurrent/persistent disease
Includes thyroglobulin antibody and thyroglobulin (Siemens)
19584(X) Thyroglobulin Panel with HAMA Treatment ICMA
Includes thyroglobulin antibody, sample pretreatment for HAMA, and thyroglobulin (Siemens)
16559 Thyroglobulin, Fine Needle Aspirate (FNA) Immunoassay Support diagnosis of metastatic thyroid carcinoma

PTC, papillary thyroid carcinoma; FTC, follicular thyroid carcinoma; LC/MS/MS, liquid chromatography tandem mass spectrometry; ICMA, immunochemiluminometric assay; ECL, electrochemiluminescence; HAMA, human anti-mouse antibodies.

a This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test.

References

  1. Nikiforov YE, Ohori NP, Hodak SP, et al. Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: A prospective analysis of 1056 FNA samples. J Clin Endocrinol Metab. 2011;96:3390-3397.

  2. Cooper DS, Doherty GM, Haugen BR, et al. Revised American Thyroid Association management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid. 2009;19:1167-1214.

  3. Tuttle RM, Ball DW, Byrd D, et al. NCCN Guidelines®: Thyroid Carcinoma. Version 3.2012. National Comprehensive Cancer Network Web site. Available at: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp. Updated July 20, 2012. Accessed September 28, 2012.

  4. Baloch ZW, LiVolsi VA, Asa SL, et al. Diagnostic terminology and morphologic criteria for cytologic diagnosis of thyroid lesions: A synopsis of the National Cancer Institute thyroid fine-needle aspiration state of the science conference. Diagn Cytopathol. 2008;36:425-437.

  5. Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: Management guidelines of the American Thyroid Association. Thyroid. 2009;19:565-612.

  6. Nikiforov YE. Molecular diagnostics of thyroid tumors. Arch Pathol Lab Med. 2011;135:569-577.

  7. Cantara S, Cappezzone M, Marchisotta S, et al. Impact of proto-oncogene mutation defect in cytological specimens from thyroid nodules improves the diagnostic accuracy of cytology. J Clin Endocrinol Metab. 2010;95:1365-1369.

  8. Spencer C, Petrovic I, Fatimi S. Current thyroglobulin autoantibody (TgAb) assays often fail to detect interfering TgAb that can result in the reporting of falsely low/undetectable serum Tg IMA values for patients with differentiated thyroid cancer. J Clin Endocrinol Metab. 2011;96:1283-1291.
     

 Content reviewed 12/2012

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* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.