Preoperative diagnosis of medullary thyroid carcinoma: Fine needle aspiration cytology as compared with serum calcitonin measurement

Bugalho, Maria João; Santos, Jorge Rosa; Sobrinho, L. G.

doi:10.1002/jso.20269

Cited by 123 publications

(106 citation statements)

References 35 publications

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“…More significant is that non-specific cytological features may wrongly suggest tumors other than MTC. These false negative diagnoses result in the failure to cytologically diagnose MTC, and lower cytological sensitivity for MTC (45,(47)(48)(49)(50)(51)(52)(53)(54)). An abstract reporting 14 samples (from 13 patients) that positively expressed the MTC gene expression signature in the Afirma GEC rare neoplasm cassettes found that all 14 were confirmed as MTC on histopathology (55).…”

Section: Rare Neoplasmsmentioning

confidence: 99%

Molecular markers in the diagnosis of thyroid nodules

Ward

Kloos²

2013

Arq Bras Endocrinol Metab

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SUMMARYAn indeterminate thyroid nodule cytology result occurs about every sixth fine-needle aspiration. These indeterminate nodules harbor a 24% risk of malignancy (ROM); too high to ignore, but driving surgery where most nodules are benign. Molecular diagnostics have emerged to ideally avoid surgery when appropriate, and to trigger the correct therapeutic surgery when indicated, as opposed to an incomplete diagnostic surgery. No current molecular test offers both high sensitivity and high specificity. A molecular diagnostic test with high sensitivity (e.g. Afirma Gene Expression Classifier sensitivity 90%) offers a high Negative Predictive Value when the ROM is relatively low, such as < 30%. Only such tests can "rule-out" cancer. In this setting, a molecularly benign result suggests the same ROM as that of operated cytologically benign nodules (~6%). Thus, clinical observation can replace diagnostic surgery; increasing quality of life and decreasing medical costs. However, its low specificity cannot "rule-in" cancer as a suspicious result has a Positive Predictive Value (PPV) of ~40%, perhaps too low to routinely reflex to definitive cancer surgery. Conversely, high specificity tests (BRAF, RAS, PPAR/PAX-8, RET/PTC, PTEN) offer high PPV results, and only these tests can "rule-in" cancer. Here a positive molecular result warrants definitive therapeutic surgery. However, their low sensitivity cannot "rule-out" cancer and a negative molecular result cannot dissuade diagnostic surgery; limiting their cost-effectiveness. Whether or not there is a useful and cost-effective role to sequentially combine these approaches, or to modify existing approaches, is under investigation. Arq Bras Endocrinol Metab. 2013;57(2):89-97 Keywords Biopsy, fine-needle; DNA mutational analysis; gene expression; genomics; molecular diagnostic techniques SUMáRioResultados indeterminados na citologia de um nódulo tireoidiano ocorrem em cerca de um a cada seis punções aspirativas por agulha fina. Esses nódulos indeterminados apresentam risco de malignidade (RM) de cerca de 24%, um valor alto demais para ser ignorado e que leva à cirurgia em casos em que a maioria dos nódulos é benigna. O diagnóstico molecular é uma forma ideal de se evitar a cirurgia quando apropriado e de se levar ao correto procedimento cirúrgico terapêutico quando indicado, em oposição à cirurgia diagnóstica incompleta. Atualmente, não existem testes moleculares com alta sensibilidade e especificidade. Um teste molecular de alta sensibilidade (por exemplo, a sensibilidade do teste Afirma Gene Expression Classifier é de 90%) tem um alto Valor Preditivo Negativo quando o RM é relativamente baixo, por exemplo, < 30%. Apenas esses testes podem "excluir" o câncer. Nesse contexto, um resultado molecular benigno sugere o mesmo RM de nódulos com resultado benigno na citologia e operados (~6%). Assim, a observação clínica pode substituir a cirurgia diagnóstica, aumentando a qualidade de vida e diminuindo os custos médicos. Entretanto, a baixa especificidade não pode "incluir" o cân...

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Section: Rare Neoplasmsmentioning

confidence: 99%

Molecular markers in the diagnosis of thyroid nodules

Ward

Kloos²

2013

Arq Bras Endocrinol Metab

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“…In a comparison of 18 F-FDG, 18 F-DOPA, and 68 Ga-somatostatin analogue PET-CT in individuals with recurrent MTC, the metastatic lesion detection rates were 28%, 85%, and 20%, respectively. According to those data, 18 F-DOPA PET-CT seems to be the most useful method for detecting MTC recurrences in individuals with elevated serum calcitonin levels (174) (B). However, other studies showed no significant differences between PET 18 F-DOPA and 18 F-FDG in the same population (175) (B).…”

Section: (B)mentioning

confidence: 99%

“…The sensitivity of FNAB for diagnosing MTC in a thyroid nodule varies from 46.1-63% (17-19) (B). Although non-diagnostic, the FNAB findings in MTC are indicative of surgery in 99% of cases (17)(18)(19)) (B). Approximately 82% of MTC cases are correctly identified by FNAB, while 9% are false-negative results (18,19) (B).…”

Section: Recommendationmentioning

confidence: 99%

“…Compared with FNAB, the sensitivity of the calcitonin measurement for preoperative diagnosis of MTC is higher (approximately 100% sensitivity and 95% specificity) (18,40,41) (B). Individuals with MTC that was diagnosed from a calcitonin measurement during the investigation of thyroid nodules exhibit better postoperative outcomes than do those diagnosed by FNAB, with 10-year survival rates of 86.8% and 43.7%, respectively (42) (B).…”

Section: (C)mentioning

confidence: 99%

“…In individuals with high calcitonin levels and negative imaging tests, 18 F-FDG PET-CT had sensitivity, specificity, and diagnostic accuracy rates of 88%, 84.6%, and 87%, respectively, for the detection of occult recurrences of MTC (173) (B). In a comparison of 18 F-FDG, 18 F-DOPA, and 68 Ga-somatostatin analogue PET-CT in individuals with recurrent MTC, the metastatic lesion detection rates were 28%, 85%, and 20%, respectively.…”

Section: (B)mentioning

confidence: 99%

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Diagnóstico, tratamento e seguimento do carcinoma medular de tireoide: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

Maia

Siqueira

Kulcsar

et al. 2014

Arq Bras Endocrinol Metab

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Introduction: Medullary thyroid carcinoma (MTC) originates in the thyroid parafollicular cells and represents 3-4% of the malignant neoplasms that affect this gland. Approximately 25% of these cases are hereditary due to activating mutations in the REarranged during Transfection (RET) proto-oncogene. The course of MTC is indolent, and survival rates depend on the tumor stage at diagnosis. The present article describes clinical evidence-based guidelines for the diagnosis, treatment, and follow-up of MTC. Objective: The aim of the consensus described herein, which was elaborated by Brazilian experts and sponsored by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism, was to discuss the diagnosis, treatment, and follow-up of individuals with MTC in accordance with the latest evidence reported in the literature. Materials and methods: After clinical questions were elaborated, the available literature was initially surveyed for evidence in the MedLine-PubMed database, followed by the Embase and Scientific Electronic Library Online/Latin American and Caribbean Health Science Literature (SciELO/Lilacs) databases. The strength of evidence was assessed according to the Oxford classification of evidence levels, which is based on study design, and the best evidence available for each question was selected. Results: Eleven questions corresponded to MTC diagnosis, 8 corresponded to its surgical treatment, and 13 corresponded to follow-up, for a total of 32 recommendations. The present article discusses the clinical and molecular diagnosis, initial surgical treatment, and postoperative management of MTC, as well as the therapeutic options for metastatic disease. Conclusions: MTC should be suspected in individuals who present with thyroid nodules and family histories of MTC, associations with pheochromocytoma and hyperparathyroidism, and/or typical phenotypic characteristics such as ganglioneuromatosis and Marfanoid habitus. Fine-needle nodule aspiration, serum calcitonin measurements, and anatomical-pathological examinations are useful for diagnostic confirmation. Surgery represents the only curative therapeutic strategy. The therapeutic options for metastatic disease remain limited and are restricted to disease control. Judicious postoperative assessments that focus on the identification of residual or recurrent disease are of paramount importance when defining the follow-up and later therapeutic management strategies. Arq Bras Endocrinol Metab. 2014;58(7):667-700

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