scholarly journals A new molecular-genetic panel in the algorithm of diagnosis and treatment in patients with tiroid nodules

2021 ◽  
Vol 23 (2) ◽  
pp. 75-82
Author(s):  
Pavel N. Romashchenko ◽  
Nicolay A. Maistrenko ◽  
Denis S. Krivolapov ◽  
Maria S. Simonova
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Threshold Value ◽  
Needle Aspiration ◽  
Braf V600e ◽  
Diagnosis And Treatment ◽  
Sodium Iodide Symporter ◽  
Limit Value ◽  
Number Of Patients

The increase in the number of patients with thyroid nodules requires the development of the most effective methods of preoperative diagnosis, allowing timely detection and differentiation of follicular neoplasia and highly differentiated cancer. A comprehensive study was carried out, which made it possible to optimize the diagnosis and choice of therapeutic tactics in patients of this category through the use of a new molecular genetic panel. Results of examination and surgical treatment of 60 patients suffering from benign and malignant thyroid gland formations are analyzed, pre-operative diagnosis of which was supplemented by immunocytochemical and molecular genetic methods of studying cellular material obtained during fine-needle aspiration biopsy. The threshold value of the Galektin-3 expression level for the differential diagnosis of follicular neoplasia in the direction of adenomas or well-differentiated thyroid cancer was determined. The significance of the BRAF V600E gene mutation in the detection of papillary thyroid cancer, the features of its clinical course and the determination of rational surgical tactics was proved. The limit value of the sodium-iodide symporter for predicting the resistance of thyroid cancer to radioactive iodine therapy, which determines the need to expand the scope of surgical intervention, has been established. The place of these molecular genetic markers in the algorithm of diagnosis and treatment in patients with thyroid nodules was determined.

Molecular Diagnostics of Thyroid Tumors

2011 ◽  
Vol 135 (5) ◽  
pp. 569-577 ◽  
Author(s):  
Yuri E. Nikiforov
Keyword(s):  
Thyroid Cancer ◽  
Molecular Markers ◽  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Genetic Alterations ◽  
Braf V600e ◽  
Fine Needle ◽  
Molecular Alterations ◽  
Diagnostic Use

Abstract Context.—Thyroid cancer is the most common type of endocrine malignancy and its incidence is steadily increasing. Papillary carcinoma and follicular carcinoma are the most common types of thyroid cancer and represent those tumor types for which use of molecular markers for diagnosis and prognostication is of high clinical significance. Objective.—To review the most common molecular alterations in thyroid cancer and their diagnostic and prognostic utility. Data Sources.—PubMed (US National Library of Medicine)–available review articles, peer-reviewed original articles, and experience of the author. Conclusions.—The most common molecular alterations in thyroid cancer include BRAF and RAS point mutations and RET/PTC and PAX8/PPARγ rearrangements. These nonoverlapping genetic alterations are found in more than 70% of papillary and follicular thyroid carcinomas. These molecular alterations can be detected in surgically resected samples and fine-needle aspiration samples from thyroid nodules and can be of significant diagnostic use. The diagnostic role of BRAF mutations has been studied most extensively, and recent studies also demonstrated a significant diagnostic utility of RAS, RET/PTC, and PAX8/PPARγ mutations, particularly in thyroid fine-needle aspiration samples with indeterminate cytology. In addition to the diagnostic use, BRAF V600E mutation can also be used for tumor prognostication, as this mutation is associated with higher rate of tumor recurrence and tumor-related mortality. The use of these and other emerging molecular markers is expected to improve significantly the accuracy of cancer diagnosis in thyroid nodules and allow more individualized surgical and postsurgical management of patients with thyroid cancer.

scholarly journals Molecular markers as risk factors for thyroid cancer

2019 ◽  
Vol 91 (10) ◽  
pp. 119-123
Author(s):  
M O Rogova ◽  
S V Novosad ◽  
N S Martirosian ◽  
L V Trukhina ◽  
N A Petunina
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Nodules ◽  
Malignant Tumors ◽  
Molecular Genetic ◽  
Endocrine System ◽  
Diagnostic Value ◽  
Needle Aspiration ◽  
Molecular Genetic Testing ◽  
Papillary Cancer ◽  
The Past

Thyroid cancer is the most common malignant tumor of the endocrine system. An increase in the incidence of thyroid cancer has been noted over the past decade, mainly due to papillary cancer. The influence of environmental factors, increased availability of medical care, including sensitive diagnostic tests, such as ultrasound and fine - needle aspiration (FNA), can affect the fact of the growth of this incidence. Palpation of thyroid gland has very low diagnostic value for detecting thyroid cancer, while thyroid ultrasound and FNA can detect malignant tumors in 20% of cases. Today, the FNA is the fastest, most accurate, economically accessible, and quite safe method for cytological diagnosis of the thyroid nodules. And molecular genetic testing of FNA samples could serve as an additional reliable diagnostic tool in the case of atypia of undetermined significance.

scholarly journals Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population

2020 ◽  
Vol 21 (16) ◽  
pp. 5629 ◽  
Author(s):  
Yoon Young Cho ◽  
So Young Park ◽  
Jung Hee Shin ◽  
Young Lyun Oh ◽  
Jun-Ho Choe ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Prospective Study ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Genetic Alterations ◽  
Braf V600e ◽  
Molecular Testing ◽  
Molecular Test ◽  
Indeterminate Cytology ◽  
A Prospective Study

Molecular testing offers more objective information in the diagnosis and personalized decision making for thyroid nodules. In Korea, as the BRAF V600E mutation is detected in 70–80% of thyroid cancer specimens, its testing in fine-needle aspiration (FNA) cytology specimens alone has been used for the differential diagnosis of thyroid nodules until now. Thus, we aimed to develop a mutation panel to detect not only BRAF V600E, but also other common genetic alterations in thyroid cancer and to evaluate the diagnostic accuracy of the mutation panel for thyroid nodules in Korea. For this prospective study, FNA specimens of 430 nodules were obtained from patients who underwent thyroid surgery for thyroid nodules. A molecular test was devised using real-time PCR to detect common genetic alterations in thyroid cancer, including BRAF, N-, H-, and K-RAS mutations and rearrangements of RET/PTC and PAX8/PPARr. Positive results for the mutation panel were confirmed by sequencing. Among the 430 FNA specimens, genetic alterations were detected in 293 cases (68%). BRAF V600E (240 of 347 cases, 69%) was the most prevalent mutation in thyroid cancer. The RAS mutation was most prevalently detected for indeterminate cytology. Among the 293 mutation-positive cases, 287 (98%) were diagnosed as cancer. The combination of molecular testing and cytology improved sensitivity from 72% (cytology alone) to 89% (combination), with a specificity of 93%. We verified the excellent diagnostic performance of the mutation panel applicable for clinical practice in Korea. A plan has been devised to validate its performance using independent FNA specimens.

scholarly journals Significance of BRAF V600E Mutation and Cytomorphological Features for the Optimization of Papillary Thyroid Cancer Diagnostics in Cytologically Indeterminate Thyroid Nodules

2018 ◽  
Vol 127 (04) ◽  
pp. 247-254 ◽  
Author(s):  
Augustas Beiša ◽  
Mindaugas Kvietkauskas ◽  
Virgilijus Beiša ◽  
Mindaugas Stoškus ◽  
Elvyra Ostanevičiūtė ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Thyroid Cancer ◽  
Logistic Regression Model ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Papillary Thyroid ◽  
Mutation Status ◽  
Fine Needle

Abstract Background Ultrasound guided fine needle aspiration biopsy with cytologic analysis is an initial step in diagnostic of thyroid nodules. Unfortunately, up to 30% of biopsies are indeterminate and diagnostic surgery is required. The aim of this study was to estimate the diagnostic value of BRAF V600E mutation status combined with cytomorphological features for diagnosis of papillary thyroid cancer (PTC) in cytologically indeterminate thyroid nodules. Methods A prospective study analyzed patients who had ultrasound suspicious thyroid nodules, underwent fine needle aspiration and cytological examination, and were classified according to the Bethesda system. Patients from indeterminate diagnostic categories were examined for BRAF V600E mutation and 22 cytomorphological features, and underwent thyroid surgery. A binary logistic regression model was used to evaluate the diagnostic utility. Results A total of 219 patients met study criteria. After histological examination, 77 (35.2%) patients were diagnosed with PTC and 142 (64.8%) with benign nodular thyroid disease. According to logistic regression model, significant features for PTC diagnosis were: liquid colloid consistency, papillary structures, eosinophilic colloid bodies, and BRAF V600E mutation. Risk groups classified by this model have sensitivity of 80.5% (95% CI: 69.9 to 88.7), specificity of 99.3% (95% CI: 96.1 to 100), positive predictive value of 98.4% (95% CI: 89.8 to 99.8), negative predictive value of 90.4% (95% CI: 85.7 to 93.7), and accuracy of 92.7% (95% CI: 88.4 to 95.8) for PTC diagnosis. Conclusions Evaluation of BRAF V600E mutation status combined with cytomorphological features for diagnosis of PTC in cytologically indeterminate thyroid nodules can significantly improve diagnostic accuracy and reduce the number of diagnostic operations (calculator available at www.ptc-calc.we2host.lt).

Psychological distress and sleep disturbance throughout thyroid nodule screening, diagnosis and treatment: a monoinstitutional prospective study (Preprint)

2020 ◽  
Author(s):  
Jianyong Lei ◽  
Genpeng Li ◽  
Yuting Wang ◽  
Ting Bao ◽  
Yali Lei ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Psychological Distress ◽  
Sleep Disturbance ◽  
Psychological Health ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Diagnosis And Treatment ◽  
Papillary Thyroid ◽  
Outcome Indicators ◽  
Thyroid Microcarcinoma

BACKGROUND Many controversies exist regarding the screening and treatment of thyroid cancer (TC), especially papillary thyroid microcarcinoma (PTMC). Numerous articles emphasize patients’ physical health, but few focus on psychological health. OBJECTIVE The aim of this study was to evaluate patients’ psychological distress and sleep disturbance throughout thyroid nodules (TNs) screening, diagnosis and treatment. METHODS Initially, 2905 eligible participants were enrolled, but some subjects were gradually excluded in different stages. Ultimately, 2834 participants (1153 participants with TNs) were enrolled during the screening phase, and 1105 individuals (87 individuals with TC) were enrolled during the diagnosis phase. Of the 87 TC patients, 66 patients underwent immediate operation (OP), and 21 patients with PTMC opted for active surveillance (AS). Four commonly used questionnaires were applied to quantify the outcome indicators at prescreening, postscreening, postdiagnosis and posttreatment. RESULTS Higher psychological distress and sleep disturbance were found postscreening than prescreening, except among those without nodules. Compared to postscreening, higher scores of psychological distress and sleep disturbance were identified in patients with suspicious TC (thyroid imaging reporting and data system ≥4) treated with fine needle aspiration (FNA) or AS , but no significant differences were found between the FNA group and AS group. Lower psychological distress and sleep disturbance were noted for benign nodule patients than for TC patients. OP for papillary thyroid cancer (PTC), especially PTMC, did not alleviate psychological distress or sleep disturbance compared with the same parameters in patients who underwent AS. CONCLUSIONS Based on the findings of impaired psychological health and sleep quality, screening for TNs in adults who show no symptoms should be performed with caution. Psychological distress and sleep disturbance should also be taken into consideration when FNA is performed for suspected TC or OP for PTC, especially PTMC.

Differences of US-FNA BSRTC class, postoperative pathology, and mutation landscape of thyroid nodules between China and other countries.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 3055-3055
Author(s):  
Yuntao Song ◽  
Jie Liu ◽  
Weiran Wang ◽  
Tonghui Ma
Keyword(s):  
United States ◽  
Thyroid Cancer ◽  
Thyroid Nodules ◽  
Malignant Tumors ◽  
The United States ◽  
Braf V600e ◽  
Class V ◽  
Ras Mutation ◽  
First Choice ◽  
Significant Difference

3055 Background: Ultrasound and ultrasound-guided fine needle aspiration (US-FNA) are the first choice for judging benign and malignant thyroid nodules. This study will report on the differences of US-FNA BSRTC class, postoperative pathology and mutation landscape of thyroid nodules between China and other countries. Methods: We conducted a prospective study containing 383 FNA samples of thyroid nodules. For most of these FNA samples, genomic DNA and RNA were extracted and sequenced with FSZ-Thyroid NGS Panel V1, and postoperative pathology were followed up. Moreover, we also compared results of this study with those of West China Hospital in China, Yamashita Thyroid Hospital in Japan, and Cleveland Clinic in the United States. Results: Among the 383 FNA samples, the proportions of BSRTC class I to VI were 10.7%, 6.3%, 18.8%, 3.7%, 12.3%, and 48.3% respectively. Compared with study in other countries, the proportion of class II was significantly lower than that in Japan and the United States. Meanwhile, the proportion of class V and VI were significantly higher than the above two countries. Subsequently, 232 thyroid nodules were surgically removed. Postoperative pathology showed that the proportion of malignant tumors (85.3%) was also significantly higher than reported in Japan and the United States. But compared with other studies in China, there was no significant difference. Most of the malignant tumors were papillary thyroid cancer (PTC, 96%), accompanied with 2 follicular thyroid cancer (FTC), 3 medullary cancer (MTC) and 3 anaplastic thyroid cancer (ATC). Compared with study in the United States, the proportion of PTC and FTC were elevated (96% vs. 85.3%) and reduced (1% vs. 9.3%) respectively. At last, we also analysis the mutation landscape of 180 malignant tumors. Compared with TCGA study, the frequency of BRAF V600E in PTC in our study was significantly higher than that of TCGA (73.3% vs. 58%), and the frequency of RAS mutation was significantly lower (1.2% vs. 12.6%). And compared with an institutional experience of ThyroSeq v3 for Bethesda III and IV at the University of Pittsburgh Medical Center, the frequency of BRAF V600E and RAS mutation in Bethesda III-IV malignant tumors was also significantly higher (45.8% vs. 1.4%) and lower (8.3% vs. 47.1%). Conclusions: There were significant differences in BSRTC class and postoperative pathology between China and other countries, such as Japan and the United States. The possible reasons included that the indications for FNA in China were different. For example, most of patients who underwent FNA in this study had suspicious clinical/ultrasound features. So the proportion of BSRTC class V and VI as well as the malignant rate were elevated. On the other hand, more BRAF V600E and less RAS mutations were detected in malignant tumors in this study which might result from racial differentiation and discrepancy in proportion of PTC and FTC.

scholarly journals What is New on Thyroid Cancer Biomarkers

2008 ◽  
Vol 3 ◽  
pp. BMI.S669 ◽  
Author(s):  
Rosaria M. Ruggeri ◽  
Alfredo Campennì ◽  
Sergio Baldari ◽  
Francesco Trimarchi ◽  
Maria Trovato
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Follicular Epithelium ◽  
Routine Practice ◽  
Appropriate Treatment ◽  
Follicular Lesions ◽  
Needle Aspiration Cytology ◽  
Well Differentiated

Thyroid cancer harbours in about 5% of thyroid nodules. The majority of them are well-differentiated cancers originating from the follicular epithelium, and are subdivided into papillary and follicular carcinomas. Undifferentiated carcinomas and medullary thyroid carcinomas arising from C cells are less common. Although most thyroid nodules are benign, distinguishing thyroid cancer from benign lesions is crucial for an appropriate treatment and follow-up. The fine needle aspiration cytology (FNAC) allows the diagnosis of nature of thyroid nodules in the majority of cases. However, FNAC has some limitations, particularly in the presence of follicular lesions which can appear dubious in rare instances even at histology. In an effort to improve diagnostic accuracy and offer new prognostic criteria, several immunohistochemical and molecular markers have been proposed. However, most of them have to be validated on large series before being used in routine practice.

NO BENEFIT OF DEDICATED THYROID NODULE SCREENING IN PATIENTS WITH ACROMEGALY

2020 ◽  
Vol 26 (1) ◽  
pp. 16-21 ◽  
Author(s):  
Ngan Betty Lai ◽  
Dave Garg ◽  
Anthony P. Heaney ◽  
Marvin Bergsneider ◽  
Angela M. Leung
Keyword(s):  
United States ◽  
Growth Hormone ◽  
Thyroid Cancer ◽  
Growth Factor ◽  
Thyroid Nodule ◽  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Papillary Thyroid ◽  
Fine Needle

Objective: Acromegaly results from the excessive production of growth hormone and insulin-like growth factor-1. While there is up to a 2-fold increased prevalence of thyroid nodules in patients with acromegaly, the incidence of thyroid cancer in this population varies from 1.6 to 10.6% in several European studies. The goal of our study was to determine the prevalence of thyroid nodules and thyroid cancer among patients with acromegaly at a large urban academic medical center in the United States (U.S.). Methods: A retrospective chart review was performed of all patients with acromegaly between 2006–2015 within the University of California, Los Angeles health system. Data were collected regarding patient demographics, thyroid ultrasounds, thyroid nodule fine needle aspiration (FNA) biopsy cytology, and thyroid surgical pathology. Results: In this cohort (n = 221, 49.3% women, mean age 53.8 ± 15.2 [SD] years, 55.2% Caucasian), 102 patients (46.2%) underwent a thyroid ultrasound, from which 71 patients (52.1% women, mean age 52.9 ± 15.2 [SD] years, 56.3% Caucasian) were found to have a thyroid nodule. Seventeen patients underwent a thyroid nodule FNA biopsy and the results revealed 12 benign biopsies, 1 follicular neoplasm, 3 suspicious for malignancy, and 1 papillary thyroid cancer (PTC), from which 6 underwent thyroidectomy; PTC was confirmed by surgical pathology for all cases (8.5% of all nodules observed). Conclusion: In this sample, the prevalence of thyroid cancer in patients with acromegaly and coexisting thyroid nodules is similar to that reported in the general U.S. population with thyroid nodules (7 to 15%). These findings suggest that there is no benefit of dedicated thyroid nodule screening in patients newly diagnosed with acromegaly. Abbreviations: AACE = American Association of Clinical Endocrinologists; ATA = American Thyroid Association; DTC = differentiated thyroid cancer; FNA = fine needle aspiration; GH = growth hormone; IGF-1 = insulin-like growth factor-1; PTC = papillary thyroid cancer; U.S. = United States

scholarly journals The value of routine measurement of serum calcitonin on insufficient, indeterminate, and suspicious thyroid nodule cytology

2021 ◽  
Author(s):  
Murat Çalapkulu ◽  
Muhammed Erkam Sencar ◽  
Sema Hepsen ◽  
Hayri Bostan ◽  
Davut Sakiz ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Thyroid Nodules ◽  
Medullary Thyroid Cancer ◽  
Fine Needle Aspiration Biopsy ◽  
Needle Aspiration ◽  
Follicular Neoplasm ◽  
Serum Calcitonin ◽  
Routine Measurement ◽  
Number Of Patients ◽  
Undetermined Significance

Routine calcitonin measurement in patients with nodular thyroid disease is rather controversial. The aim of this study was to evaluate the contribution of serum calcitonin measurement in the diagnostic evaluation of thyroid nodules with insufficient, indeterminate, or suspicious cytology. Out of 1668 patients who underwent thyroidectomy with the diagnosis of nodular thyroid disease and were screened, 873 patients with insufficient, indeterminate, or suspicious fine needle aspiration biopsy results were included in the study. From the total number of patients in this study, 10 (1.1%) were diagnosed as medullary thyroid cancer (MTC) using histopathology. The calcitonin level was detected to be above the assay-specific cut-off in 23 (2.6%) patients ranging between 6.5 - 4450 pg/mL. While hypercalcitoninemia was detected in all 10 MTC patients, a false positive elevation of serum calcitonin was detected in 13 patients (1.5%). Of the MTC group, 7 patients had cytology results that were suspicious for malignancy (Bethesda V), one patient’s cytology showed atypia of undetermined significance (Bethesda III) and two patient’s cytology results were suspicious for follicular neoplasm (Bethesda IV). Among the cases with non-diagnostic cytology (Bethesda I), none of the patients were diagnosed with MTC. In conclusion, routine serum calcitonin measurement can be performed in selected cases rather than in all nodular thyroid patients. While it is reasonable to perform routine calcitonin measurement in patients with Bethesda IV and Bethesda V, this measurement was not useful in Bethesda I patients. In Bethesda III patients, patient-based decisions can be made according to their calcitonin measurement. Read more in PDF.

Intraoperative Frozen Section Performance for Thyroid Cancer Diagnosis

2021 ◽  
Author(s):  
Iuri Martin Goemann ◽  
Francisco Paixão ◽  
Alceu Migliavaca ◽  
José Ricardo Guimarães ◽  
Rafael Selbach Scheffel ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Cancer Diagnosis ◽  
Thyroid Nodules ◽  
Frozen Section ◽  
Needle Aspiration ◽  
Intraoperative Frozen Section ◽  
Indeterminate Nodules ◽  
Intraoperative Management ◽  
Low Sensitivity ◽  
Sensitivity Specificity

Abstract Purpose: A primary medical relevance of thyroid nodules consists of excluding thyroid cancer, present in approximately 5% of all thyroid nodules. Fine-needle aspiration biopsy (FNAB) has a paramount role in distinguishing benign from malignant thyroid nodules due to its availability and diagnostic performance. Nevertheless, intraoperative frozen section (iFS) is still advocated as a valuable tool for surgery planning, especially for indeterminate nodules. Methods: To compare the FNAB and iFS performances in thyroid cancer diagnosis among nodules in Bethesda Categories (BC) I to VI. The performance of FNAB and iFS tests were calculated using final histopathology results as the gold standard.Results: In total, 316 patients were included in the analysis. Both FNAB and iFS data were available for 272 patients (86.1%). The overall malignancy rate was 30.4%% (n=96). The FNAB sensitivity, specificity, and accuracy for benign (BC II) and malignant (BC V and VI) were 89.5%, 97.1%, and 94.1%, respectively. For all nodules evaluated, the iFS sensitivity, specificity, and accuracy were 80.9%, 100%, and 94.9%, respectively. For indeterminate nodules and follicular lesions (BC III and IV), the iFS sensitivity, specificity, and accuracy were 25%, 100%, and 88.7%, respectively. For BC I nodules, iFS had 95.2% of accuracy.Conclusion: Our results do not support routine iFS for indeterminate nodules or follicular neoplasms (BC III and IV) due to its low sensitivity. In these categories, iFS is not sufficiently accurate to guide the intraoperative management of thyroidectomies. iFS for BC I nodules could be a reasonable option and should be specifically investigated.

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