The quest for diagnostic molecular markers for thyroid nodules with indeterminate or suspicious cytology

Kouniavsky, Guennadi; Zeiger, Martha A.

doi:10.1002/jso.21935

Cited by 19 publications

(23 citation statements)

References 85 publications

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“…Although different opinions exist, ICC is considered by some scholars as a molecular test that detects cellular changes at molecular levels [7][8][9] and is included in this review for completeness. Immunocytochemistry is available in most pathology laboratories, is less time consuming, is less expensive, and practicing pathologists are confident in interpreting its results.…”

Section: Immunocytochemistrymentioning

confidence: 99%

Value of Molecular Tests in Cytologically Indeterminate Lesions of Thyroid

Zhang

2015

Archives of Pathology &Amp; Laboratory Medicine

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Context Fine-needle aspiration has been the initial step in the workup of thyroid nodular lesions and has successfully reduced the number of unnecessary surgeries and improved preoperative malignancy detection. However, up to one-third of cases fall in the diagnostically “indeterminate group,” which poses a patient-management challenge. Objective To review the characteristics of molecular tests useful for stratifying the malignancy risk of indeterminate thyroid lesions, including their advantages and limitations. Data sources PubMed. Conclusions Molecular tests are useful for triage of indeterminate thyroid nodules initially diagnosed by using fine-needle aspiration. Immunocytochemistry is readily available with the shortest turnaround time among the molecular tests but suffers from poor reproducibility and low interpretation concordance. Gene mutation analysis is superior in detecting malignancies as a rule-in test, despite low specificity. Next-generation sequencing seems promising but needs more validations before widespread use. Gene expression profiling is more suitable for detecting benign lesions as a rule-out test to avoid unnecessary surgeries but is not reliable in excluding malignancies. MicroRNA profiling has great potential for both risk stratification and predicting prognosis but is limited by significant variations in sensitivity and specificity. Although many questions still need to be answered, taken together, molecular tests are a promising option for classifying cytologically indeterminate thyroid nodular lesions.

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Section: Immunocytochemistrymentioning

confidence: 99%

Value of Molecular Tests in Cytologically Indeterminate Lesions of Thyroid

Zhang

2015

Archives of Pathology &Amp; Laboratory Medicine

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“…Despite a low sensitivity, BRAF mutation specificity is quite high with a false positive rate of only 0.2%. 54,55) A more recent meta-analysis, summarizing the results of 6 studies and including 2800 malignant and benign lesions, reported a BRAF mutation specificity of 97.9% and a positive predictive value of 99.9%. Only seven false positive results were identified in three different studies.…”

Section: Braf Mutationmentioning

confidence: 99%

Immunohistochemical and Molecular Markers Associated with Differentiated Thyroid Carcinoma

Jung

Choi

Lee

et al. 2015

J Korean Thyroid Assoc

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“…For thyroid cancer, BRAF and RAS mutations and RET/ PTC and PAX8/PPARc rearrangements, associated with the abnormal regulation of miRNAs, constitute the most implicated molecular alterations identified in PTC [19][20][21][22][23]. BRAF is the most common mutation detected in PTC with a frequency of 45 % [24 • ] and is rare in follicular adenoma and carcinoma [16].…”

Section: Molecular Markersmentioning

confidence: 99%

“…The RAS oncogene (HRAS, KRAS and NRAS) encodes small GTP-ase proteins involved in signal transduction [21] and has predominance in follicular neoplasms, including follicular adenoma, follicular carcinoma and the follicular variant of PTC [22,26].…”

Section: Molecular Markersmentioning

confidence: 99%

“…Despite its feasibility, this approach may lead to unnecessary operations being performed in 75 % of patients along with the inherent risks and expenses involved in this treatment paradigm. The inclusion of a panel of biomarkers that could improve the sensitivity and specificity of the FNAB is desired in this situation and could improve the stratification of malignancy risk [22]. To date, no molecular marker or set of markers has met the requirements to answer the questions regarding the risk of cancer in the FLUS group [22].…”

Section: The Challenge Of Molecular Diagnosis For Wdtcmentioning

confidence: 99%

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Molecular Markers: From Diagnosis to Prognosis in 2013

Teixeira

Cernea

2013

Curr Otorhinolaryngol Rep

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The detection of molecular alterations in the signaling pathways in thyroid carcinogenesis relates to some diagnostic, prognostic and treatment issues. The addition of the molecular profile to a well-differentiated thyroid cancer approach improves the accuracy of cancer detection, the prognostication and the selection of therapeutic targets for a more personalized management. It is expected that in the next few years, guidelines for thyroid cancer treatment will require a molecular marker panel to define the best treatment for this disease. BRAF and RAS mutations and RET/papillary thyroid cancer (PTC) and PAX8/PPARc rearrangements, associated with the abnormal regulation of microRNA, constitute the most frequent molecular alterations identified in PTC. The clinical implications of the expression of these altered genes and molecules and the usefulness of these data for tailoring the approach to the disease and patient are the focus of this review.

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The quest for diagnostic molecular markers for thyroid nodules with indeterminate or suspicious cytology

Cited by 19 publications

References 85 publications

Value of Molecular Tests in Cytologically Indeterminate Lesions of Thyroid

Value of Molecular Tests in Cytologically Indeterminate Lesions of Thyroid

Immunohistochemical and Molecular Markers Associated with Differentiated Thyroid Carcinoma

Molecular Markers: From Diagnosis to Prognosis in 2013

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