Limitations of preoperative cytology for medullary thyroid cancer: Proposal for improved preoperative diagnosis for optimal initial medullary thyroid carcinoma specific surgery

Workman, Alan D.; Soylu, Selen; Kamani, Dipti; Nourmahnad, Anahita; Kyriazidis, Natalia; Saade, Ryan; Ren, Yin; Wirth, Lori J.; Faquin, William C.; Önenerk, Ayşe Mine; Nikiforov, Yuri E.; Al‐Qurayshi, Zaid; Kandil, Emad; Kloos, Richard T.; Eldeiry, Leslie S.; Lubitz, Carrie C.; Stathatos, Nikolaos; Randolph, Gregory W.

doi:10.1002/hed.26550

Cited by 15 publications

(11 citation statements)

References 40 publications

(53 reference statements)

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“…Parathyroid adenoma, parathyroid hyperplasia, and the rare parathyroid carcinoma should be considered in the differential diagnosis of a positive result. Diagnosis of MTC is also a cytological challenge ( 29 , 30 ). The Afirma MTC classifier was positive in 0.25% of cytologically indeterminate nodules, and higher prevalence was seen among Bethesda categories V and VI ( Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Afirma Genomic Sequencing Classifier and Xpression Atlas Molecular Findings in Consecutive Bethesda III-VI Thyroid Nodules

Waguespack

Dosiou

et al. 2021

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Broad genomic analyses among thyroid histologies have been described from relatively small cohorts. Objective Investigate the molecular findings across a large, real-world cohort of thyroid fine needle aspiration (FNA) samples. Design Retrospective analysis of RNA sequencing data files. Setting CLIA laboratory performing Afirma Genomic Sequencing Classifier (GSC) and Xpression Atlas (XA) testing. Participants 50,644 consecutive Bethesda III-VI nodules. Intervention none. Main Outcome Measures Molecular test results. Results Of 48,952 Bethesda III/IV FNAs studied, 66% were benign by Afirma GSC. The prevalence of BRAF V600E was 2% among all Bethesda III/IV FNAs and 76% among Bethesda VI FNAs. Fusions involving NTRK, RET, BRAF, and ALK were most prevalent in Bethesda V (10%), and 130 different gene partners were identified. Among small consecutive Bethesda III/IV sample cohorts with one of these fusions and available surgical pathology excision data, the positive predictive value of an NTRK or RET fusion for carcinoma or non-invasive follicular thyroid neoplasm with papillary-like nuclear features was >95%, while for BRAF and ALK fusions it was 81% and 67%, respectively. At least one genomic alteration was identified by the expanded Afirma XA panel in 70% of Medullary Thyroid Carcinoma Classifier positive FNAs, 44% of Bethesda III or IV Afirma GSC suspicious FNAs, 64% of Bethesda V FNAs, and 87% of Bethesda VI FNAs. Conclusions This large study demonstrates that almost half of Bethesda III/IV Afirma GSC suspicious and most Bethesda V/VI nodules had at least 1 genomic variant or fusion identified, which may optimize personalized treatment decisions.

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Section: Discussionmentioning

confidence: 99%

Afirma Genomic Sequencing Classifier and Xpression Atlas Molecular Findings in Consecutive Bethesda III-VI Thyroid Nodules

Waguespack

Dosiou

et al. 2021

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…In one tertiary care center, one-third of patients who had MTC diagnosed on final pathology in an index Medullary thyroid carcinoma: recent advances in identification, treatment, and prognosis nodule did not have MTC diagnosed on preoperative FNA of that index nodule. 5 Therefore, additional methods to identify MTC preoperatively in patients with nodular thyroid disease have been proposed, including calcitonin screening. In a series where more than 10,000 patients with nodular thyroid disease underwent calcitonin screening, 0.4% had an elevated basal calcitonin level and confirmed with a pentagastrin-stimulated calcitonin level.…”

Section: Diagnostic Laboratory Studiesmentioning

confidence: 99%

Medullary thyroid carcinoma: recent advances in identification, treatment, and prognosis

Bartz-Kurycki

Oluwo

Morris‐Wiseman

2021

Therapeutic Advances in Endocrinology

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Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor that represents <5% of all thyroid malignancies and is generally more aggressive than differentiated thyroid cancer. The aim of this study is to provide an update, through review of clinical studies of patients with MTC published between January 1, 2016, and June 1, 2021, on recent advances in the diagnosis and treatment of MTC. This review focuses on updates in biochemical testing, imaging, hereditary disease, surgical management, adjuvant therapies, and prognosis. Recent advances reviewed herein have sought to diagnose MTC at earlier stages of disease, predict when patients with a hereditary syndrome may develop MTC, use functional imaging to assess for distant metastases, perform optimal initial surgery with appropriate lymphadenectomy, employ targeted systemic therapies for patients with progressive metastatic disease, and better predict patient-specific outcomes.

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“…Differently from DTC, the sensitivity of neck ultrasonography in detecting MTC is quite low, also when the 5 main ultrasonographic risk stratification systems were applied ( 32 ). Moreover, fine needle aspiration cytology (FNAC) showed low sensitivity in identifying MTC ( 33 – 35 ).…”

Section: Clinical Presentationmentioning

confidence: 99%

Sporadic Medullary Thyroid Carcinoma: Towards a Precision Medicine

et al. 2022

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Medullary thyroid carcinoma (MTC) is a neuroendocrine malignant tumor originating from parafollicular C-cells producing calcitonin. Most of cases (75%) are sporadic while the remaining (25%) are hereditary. In these latter cases medullary thyroid carcinoma can be associated (multiple endocrine neoplasia type IIA and IIB) or not (familial medullary thyroid carcinoma), with other endocrine diseases such as pheochromocytoma and/or hyperparathyroidism. RET gene point mutation is the main molecular alteration involved in MTC tumorigenesis, both in sporadic and in hereditary cases. Total thyroidectomy with prophylactic/therapeutic central compartment lymph nodes dissection is the initial treatment of choice. Further treatments are needed according to tumor burden and rate of progression. Surgical treatments and local therapies are advocated in the case of single or few local or distant metastasis and slow rate of progression. Conversely, systemic treatments should be initiated in cases with large metastatic and rapidly progressive disease. In this review, we discuss the details of systemic treatments in advanced and metastatic sporadic MTC, focusing on multikinase inhibitors, both those already used in clinical practice and under investigation, and on emerging treatments such as highly selective RET inhibitors and radionuclide therapy.

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Limitations of preoperative cytology for medullary thyroid cancer: Proposal for improved preoperative diagnosis for optimal initial medullary thyroid carcinoma specific surgery

Cited by 15 publications

References 40 publications

Afirma Genomic Sequencing Classifier and Xpression Atlas Molecular Findings in Consecutive Bethesda III-VI Thyroid Nodules

Afirma Genomic Sequencing Classifier and Xpression Atlas Molecular Findings in Consecutive Bethesda III-VI Thyroid Nodules

Medullary thyroid carcinoma: recent advances in identification, treatment, and prognosis

Sporadic Medullary Thyroid Carcinoma: Towards a Precision Medicine

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