High BRAFV600E mutation frequency in Chinese patients with papillary thyroid carcinoma increases diagnostic efficacy in cytologically indeterminate thyroid nodules

Mutation BRAFV600E is highly specific for papillary thyroid carcinoma. It’s detected in 40-70% of all papillary thyroid carcinoma cases. Moreover this mutation is noticed in anaplastic carcinoma in 40-50%.This fact gives a chance to select patients and provide targeted therapy with multi-kinase inhibitors in cases of unresectable anaplastic carcinoma. The influence of BRAF V600E mutation for response to radioactive iodine therapy requires more evidence-based research. Existing methods for determining the BRAFV600E mutation have different accuracy, availability and cost. Other methodological aspects are also associated with the sample preparation of biological material, the quality of reagents, and the cross-validation of research results. In this review, on the basis of our own experience and literature data, the indications for determining the mutation of the BRAFV600E gene in clinical practice are refined, and a comprehensive comparative analysis of modern research methods has been conducted. This review is focused on a wide range of specialists of different types: oncologists, endocrinologists, radiologists, pathologists, and biologists.

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Prevalence and pattern of thyroid malignancy in thyroid nodule in Aseer Central Hospital in KSA

International Journal of Otorhinolaryngology and Head and Neck Surgery ◽

10.18203/issn.2454-5929.ijohns20174207 ◽

2017 ◽

Vol 3 (4) ◽

pp. 908 ◽

Cited By ~ 2

Author(s):

Jibril Yahya Hudise ◽

Khalid Ali Alshehri ◽

Saad Nasser Alqarni ◽

Yara Assiri ◽

Ashwaq Asiri ◽

...

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Thyroid Nodule ◽

Cell Carcinoma ◽

Thyroid Nodules ◽

Follicular Thyroid Carcinoma ◽

Papillary Thyroid ◽

Thyroid Malignancy ◽

Central Hospital ◽

Medullary Thyroid

Background: Thyroid nodules are common in the general population, especially in women. Non palpable nodules are often found when patients undergo diagnostic imaging such as ultrasonography and computed tomography of the chest and neck. This retrospective study to assess the Prevalence of thyroid malignancy in thyroid nodule related to gender, age, and pathology, in Aseer Central Hospital KSA. Methods: During a 5-year period (2011–2016), the medical records of 319 patients with thyroid nodules were collected from the department of pathology at Aseer Central Hospital KSA. The cases were reviewed for data on gender, age, and the pathological result. All patients underwent hemi or total thyroidectomy. Comparisons between genders, age groups, and tissue origins were performed. All statistical tests were performed with SPSS software. Results: Over a period of 5 years, a total of 319 patients: male 17.2% and female 82.8% Underwent for hemi or total thyroidectomy. The age of presentation was ranging from 14 to 80 years. Among the 319 cases of thyroid nodules 73.7% were benign nodules and 26.3% malignant nodules. Papillary thyroid carcinoma in 72.6%, follicular thyroid carcinoma 10.6%, Hurthle cell carcinoma 4.8%, anaplastic carcinoma 4.8%, thyroid lymphoma 4.8% and medullary thyroid carcinoma in 2.4%. Conclusions: Thyroid nodule is a common clinical problem and the proportion of such nodules that prove to be malignant is not small, investigations are of immense help to corroborate with the clinical and morphological finding. Papillary thyroid carcinoma most common malignant thyroid carcinoma followed by follicular thyroid carcinoma, hurthel cell carcinoma, anaplastic thyroid carcinoma, lymphoma and finally medullary thyroid Carcinoma. No significant different between male and female as risk factors for malignancy.

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INCIDENTAL PULMONARY METASTASES REVEALING SUBCENTIMETER PAPILLARY THYROID CARCINOMA

AACE Clinical Case Reports ◽

10.4158/accr-2020-0051 ◽

2020 ◽

Vol 6 (5) ◽

pp. e273-e278

Author(s):

Ruey Hu ◽

George Xu ◽

Thomas Stricker ◽

Bingshan Li ◽

Vivian L. Weiss ◽

...

Keyword(s):

Computed Tomography ◽

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Active Surveillance ◽

Thyroid Nodules ◽

Lung Metastases ◽

Molecular Testing ◽

American Thyroid Association ◽

Cancer Genes ◽

Papillary Thyroid

Objective: Here we present 2 cases of papillary thyroid microcarcinomas (PMCs) that had metastasized at presentation. The 2015 American Thyroid Association and the American College of Radiology Thyroid Imaging Reporting and Data System (TI-RADS) criteria do not recommend biopsy of the majority of subcentimeter thyroid nodules, as PMCs are mostly indolent with excellent prognosis. However, the paradigm of active surveillance presents a conundrum on how to identify the rare patient with distant metastatic disease while avoiding unnecessary intervention in the majority. Methods: After initial discovery of incidental lesions on chest computed tomography, core or wedge biopsies of the lung lesion were performed. Thyroid nodules on ultrasound were classified by TI-RADS. Tumor DNA was sequenced, annotated, filtered on 119 known cancer genes, and filtered for variants with an exome allele frequency of <0.001. Results: A 70-year-old woman and a 29-year-old woman presented with incidental pulmonary lesions on computed tomography scan. Lung biopsy revealed lung metastases from papillary thyroid carcinoma. The thyroid nodules in both patients were TI-RADS 3 and American Thyroid Association low-suspicion. Molecular testing showed a c.1721C>G mutation (p.Thr574Ser) in the TSHR gene in patient 1 and a codon 61 mutation in the NRAS gene in patient 2. Both patients were iodine-avid, with complete structural remission in one patient and ongoing treatment with evidence of structural response in the other. Conclusion: The 2 presentations demonstrate unexpected and concerning behavior of PMCs. Both thyroid tumors were subcentimeter in diameter, meaning they would have escaped detection using traditional risk-stratification algorithms in active surveillance. Further knowledge of tumor genetics and microenvironment may assist in predicting tumor behavior in PMCs.

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The ratio of BRAFV600E alleles can be used to assess the biological behavior of papillary thyroid carcinoma

10.1101/2020.10.31.20223610 ◽

2020 ◽

Author(s):

Dingcun Luo ◽

Yeqin Ni ◽

Shirong Zhang ◽

Yanping Xun ◽

Pan Zhao ◽

...

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Tumor Recurrence ◽

Recurrence Risk ◽

Tumor Stage ◽

Biological Behavior ◽

Clinicopathological Parameters ◽

Quantitative Detection ◽

Papillary Thyroid ◽

Brafv600e Mutation

ABSTRACTBackgroundThe BRAFV600E mutations is an important molecular event in the occurrence and development of papillary thyroid carcinoma (PTC). A qualitative detection of the BRAFV600E mutation is still insufficient to explain the biological behavior of PTC. Though quantitative detection of the BRAFV600E mutation can reflect certain characteristics of PTC, its clinical value is still controversial. We aimed to investigate the association between the ratio of BRAFV600E alleles and clinicopathological parameters in PTC patients.MethodsGenomic DNA was extracted from specimens obtained from 329 PTC patients undergoing thyroidectomy. The ratio of BRAFV600E alleles was determined by amplification refractory mutation system (ARMS) and droplet digital polymerase chain reaction (ddPCR). Inconsistent results were further verified by next-generation sequencing (NGS). The clinicopathologic features, clinical tumor stage, and tumor recurrence risk stratification of all patients were correlated with the ratio of BRAFV600E alleles.ResultsThe sensitivity of ddPCR was superior to that of ARMS and almost the same as that of NGS. In total, 275 of 329 patients had the BRAFV600E mutation as determined by ARMS, ddPCR and NGS. The ratio of BRAFV600E alleles ranged from 0.17%-48.0%, with a median ratio of 12.58%, and significantly correlated with tumor size (p<0.001), capsule or extrathyroidal invasion (p<0.001), the number or rate of lymph node metastases (p<0.001), tumor stage (p=0.006) and tumor recurrence risk (p<0.001) but not with sex, age or multifocality. The ratio of BRAFV600E alleles was much lower in PTC patients with Hashimoto’s thyroiditis than in those without (p<0.001).ConclusionsThe ratio of BRAFV600E alleles can reliably reflect the biological behavior of PTC, making it a molecular-based stratification index of recurrence risk. The quantitative detection of BRAFV600E has the potential to guide the clinical diagnosis and treatment of PTC.

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Comparison of Immunohistochemistry and Direct Sequencing Methods for Identification of the BRAFV600E Mutation in Papillary Thyroid Carcinoma

Annals of Surgical Oncology ◽

10.1245/s10434-018-6460-3 ◽

2018 ◽

Vol 25 (6) ◽

pp. 1775-1781 ◽

Cited By ~ 13

Author(s):

Jong-kyu Kim ◽

Chan Yong Seong ◽

In Eui Bae ◽

Jin Wook Yi ◽

Hyeong Won Yu ◽

...

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Direct Sequencing ◽

Papillary Thyroid ◽

Brafv600e Mutation

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Prevalence of BRAFV600E Mutation in Iranian Patients with Papillary Thyroid Carcinoma: A Single-Center Study

Journal of Applied Sciences ◽

10.3923/jas.2009.3593.3597 ◽

2009 ◽

Vol 9 (19) ◽

pp. 3593-3597 ◽

Cited By ~ 6

Author(s):

J. Mohammadi- ◽

B. Larijani ◽

Z. Khorgami ◽

S.M. Tavangar ◽

V. Haghpanah ◽

...

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Papillary Thyroid ◽

Brafv600e Mutation ◽

Single Center ◽

Single Center Study ◽

Iranian Patients ◽

Center Study

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Thyroid stimulating hormone levels and BRAFV600E mutation contribute to pathophysiology of papillary thyroid carcinoma: Relation to outcomes?

Pathophysiology ◽

10.1016/j.pathophys.2019.05.001 ◽

2019 ◽

Vol 26 (2) ◽

pp. 129-135 ◽

Cited By ~ 2

Author(s):

Oksana Sulaieva ◽

Olena Chernenko ◽

Yelisaveta Chereshneva ◽

Dibahan Tsomartova ◽

Oleksandr Larin

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Thyroid Stimulating Hormone ◽

Papillary Thyroid ◽

Brafv600e Mutation ◽

Hormone Levels ◽

Stimulating Hormone

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Papillary Thyroid Carcinoma With Cystic Changes in a Patient With Prior History of Toxic Nodule

Journal of Investigative Medicine High Impact Case Reports ◽

10.1177/2324709620942672 ◽

2020 ◽

Vol 8 ◽

pp. 232470962094267

Author(s):

Gliceida Maria Galarza Fortuna ◽

Paola Rios ◽

Ailyn Rivero ◽

Gabriela Zuniga ◽

Kathrin Dvir ◽

...

Keyword(s):

Thyroid Cancer ◽

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Thyroid Nodule ◽

Thyroid Nodules ◽

Molecular Testing ◽

Papillary Thyroid ◽

Thyroid Lobectomy ◽

Cystic Changes ◽

History Of

Thyroid nodules are palpable on up to 7% of asymptomatic patients. Cancer is present in 8% to 16% of those patients with previously identified thyroid nodules. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, accounting for approximately 85% of thyroid cancers. Although most appear as solid nodules on ultrasound imaging, a subset of 2.5% to 6% has cystic components. The presence of cystic changes within thyroid nodules decreases the accuracy of fine needle aspiration (FNA) in the diagnosis of thyroid cancer, given the difficulty of obtaining appropriate cellular content. This becomes a diagnostic and therapeutic challenge. We present a case of a 31-year-old female with a 1-month history of palpitations, fatigue, and night sweats, who underwent evaluation, and was diagnosed with subclinical hyperthyroidism. She presented 4 years later with compressive symptoms leading to repeat FNA, showing Bethesda III-atypia of undetermined significance and negative molecular testing. Thyroid lobectomy revealed PTC with cystic changes. This case is a reminder that patients with hyperfunctioning thyroid nodule should have closer follow-up. It poses the diagnostic dilemma of how much is good enough in the evaluation and management of a thyroid nodule. Early detection and action should be the standard of care.

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