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- Title
Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples.
- Authors
Nikiforov, Yuri E; Ohori, N Paul; Hodak, Steven P; Carty, Sally E; LeBeau, Shane O; Ferris, Robert L; Yip, Linwah; Seethala, Raja R; Tublin, Mitchell E; Stang, Michael T; Coyne, Christopher; Johnson, Jonas T; Stewart, Andrew F; Nikiforova, Marina N
- Abstract
<bold>Context: </bold>Thyroid nodules are common in adults, but only a small fraction of them is malignant. Fine-needle aspiration (FNA) cytology provides a definitive diagnosis of benign or malignant disease in many cases, whereas about 25% of nodules are indeterminate, hindering most appropriate management.<bold>Objective: </bold>The objective of the investigation was to study the clinical utility of molecular testing of thyroid FNA samples with indeterminate cytology.<bold>Design: </bold>Residual material from 1056 consecutive thyroid FNA samples with indeterminate cytology was used for prospective molecular analysis that included the assessment of cell adequacy by a newly developed PCR assay and testing for a panel of mutations consisted of BRAF V600E, NRAS codon 61, HRAS codon 61, and KRAS codons 12/13 point mutations and RET/PTC1, RET/PTC3, and PAX8/PPARγ rearrangements.<bold>Results: </bold>The collected material was adequate for molecular analysis in 967 samples (92%), which yielded 87 mutations including 19 BRAF, 62 RAS, 1 RET/PTC, and five PAX8/PPARγ. Four hundred seventy-nine patients who contributed 513 samples underwent surgery. In specific categories of indeterminate cytology, i.e. atypia of undetermined significance/follicular lesion of undetermined significance, follicular neoplasm/suspicious for a follicular neoplasm, and suspicious for malignant cells, the detection of any mutation conferred the risk of histologic malignancy of 88, 87, and 95%, respectively. The risk of cancer in mutation-negative nodules was 6, 14, and 28%, respectively. Of 6% of cancers in mutation-negative nodules with atypia of undetermined significance/follicular lesion of undetermined significance cytology, only 2.3% were invasive and 0.5% had extrathyroidal extension.<bold>Conclusion: </bold>Molecular analysis for a panel of mutations has significant diagnostic value for all categories of indeterminate cytology and can be helpful for more effective clinical management of these patients.
- Subjects
COMPARATIVE studies; LONGITUDINAL method; RESEARCH methodology; MEDICAL cooperation; NEEDLE biopsy; RESEARCH; RESEARCH funding; THYROID gland; EVALUATION research; THYROID gland tumors; SEQUENCE analysis; DIAGNOSIS
- Publication
Journal of Clinical Endocrinology & Metabolism, 2011, Vol 96, Issue 11, p3390
- ISSN
0021-972X
- Publication type
journal article
- DOI
10.1210/jc.2011-1469