B-RAF V600E mutational analysis of fine needle aspirates correlates with diagnosis of thyroid nodules

2009 ◽  
Vol 140 (5) ◽  
pp. 709-714 ◽  
Author(s):  
Brandon G. Bentz ◽  
Brian T. Miller ◽  
Joseph A. Holden ◽  
Leslie R. Rowe ◽  
Joel S. Bentz

Objective: A mutation of B-type RAF kinase (B-RAF) represents the most common genetic alteration in papillary thyroid cancer (PTC), possibly signifying a more aggressive biology. Fine needle aspiration (FNA) represents the most useful initial diagnostic tool of thyroid nodules. Molecular analysis of the mutation status of B-RAF in thyroid nodule FNAs may provide guidance for treatment planning. Study Design: Cross-sectional study. Subjects and Methods: A retrospective chart review was undertaken for clinically relevant data of papillary thyroid cancer (PTC), follicular variant of PTC (FV-PTC), and nonmalignant goiters. After blinded pathologic review, histologic and cytologic samples were analyzed by LightCycler PCR (LCPCR) with allele-specific fluorescent probe melting curve analysis (FMCA) for the V600E mutation of B-RAF. Results: Of the 45 patient samples analyzed, B-RAF mutation was found to be significantly higher in papillary carcinomas when compared to follicular variant of papillary thyroid carcinomas (55.6% vs 14.3%, P = 0.05). Pathologic B-RAF mutational status significantly correlated with cytologic B-RAF mutational status ( P < 0.0001), cytologic interpretation ( P = 0.012), and histologic diagnosis ( P = 0.011). Conclusions: Determination of B-RAF V600E mutation of thyroid nodule FNAs by LCPCR may be a useful tool to guide treatment planning. These data support investigating the utility of this molecular marker in a prospective manner.

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P37-P38
Author(s):  
Brandon G Bentz ◽  
Brian Thomas Miller ◽  
Joseph Holden ◽  
Leslie R Rowe ◽  
Joel Bentz

Objective Fine needle aspiration (FNA) represents the most useful initial diagnostic tool with which to analyze thyroid nodules for carcinoma. A mutation of the B-type RAF kinase (BRAF) represents the most common genetic alteration in sporadic papillary thyroid cancer (PTC), and may signify a more aggressive biological behavior within PTCs. Our objective was to determine if BRAF analysis of FNA cytology may provide clinically useful information in the analysis of thyroid nodules. Methods An IRB-approved retrospective chart review of clinically relevant data for classic PTCs (CPTC), follicular-variant of PTC (FV-PTC), or non-malignant goiter was performed following a blinded pathologic re-review. Both pathologic and cytology samples were analyzed by fluorescent melting curve analysis (FMCA) for the V600E mutation of BRAF, and mutational status was compared with clinical information. Results A 100% concordance was found for BRAF mutation determination between the cytologic and final pathologic malignant and benign tissue samples studied. BRAF mutation was found to be significantly higher in papillary carcinomas when compared to follicular-variant of papillary thyroid carcinomas (55.6% vs. 14.3%, p=0.05), and correlated with cytologic interpretation (p=0.025) and histologic diagnosis (p=0.03). Conclusions FMCA of thyroid nodule FNAs can accurately determine the mutational status of the BRAF gene. Since the presence of BRAF mutation can predict a more aggressive biological behavior, an analysis of BRAF mutational status of initial FNAs may add useful information to the list of risk stratification criteria for PTCs.


2020 ◽  
Vol 26 (1) ◽  
pp. 16-21 ◽  
Author(s):  
Ngan Betty Lai ◽  
Dave Garg ◽  
Anthony P. Heaney ◽  
Marvin Bergsneider ◽  
Angela M. Leung

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


2017 ◽  
Vol 63 (2) ◽  
pp. 114-116 ◽  
Author(s):  
Olga S. Rogova ◽  
Goar F. Okminyan ◽  
Lubov N. Samsonova ◽  
Elena V. Kiseleva ◽  
Oleg Yu. Latyshev ◽  
...  

The rate of nodular goiter in children ranges from 0.05 to 5.1%; in this case, the risk of thyroid cancer in childhood amounts to 3―70% of all cases of thyroid pathology. Therefore, the main issue is the differential diagnosis of a nosological variant of a thyroid nodule, which defines the optimal therapeutic tactics for a particular patient. The risk of malignancy is traditionally believed to be low in the case of decompensated functional autonomy of a thyroid nodule; therefore, the need for fine needle aspiration biopsy (FNAB) followed by cytomorphological analysis of the aspirate is avoided in most cases. The presented clinical case demonstrates papillary cancer in an adolescent with a toxic single nodular goiter. A thyroid ultrasound examination revealed a nodular lesion in the boy. An increase in the thyroid size and thyrotoxicosis manifestation occurred 3 years later. A cytomorphological study identified follicular neoplasia; scintigraphy revealed a hot nodule. Surgical treatment was planned. Antithyroid therapy was prescribed to prepare for surgery. After compensation of thyrotoxicosis, hemithyroidectomy was performed. A histological examination diagnosed papillary thyroid cancer, which required repeated thyroidectomy followed by radioiodine I131 ablation. The postoperative period was uneventful; the patient well tolerated suppressive levothyroxine therapy. Therefore, the presence of a toxic single nodular goiter does not exclude thyroid cancer, which defines the need to discuss the indications for FNAB of thyroid nodules in children.


2014 ◽  
Vol 58 (9) ◽  
pp. 939-945 ◽  
Author(s):  
Dilek Arpaci ◽  
Didem Ozdemir ◽  
Neslihan Cuhaci ◽  
Ahmet Dirikoc ◽  
Aylin Kilicyazgan ◽  
...  

Objective Microcalcification is strongly correlated with papillary thyroid cancer. It is not clear whether macrocalcification is associated with malignancy. In this study, we aimed to assess the result of fine needle aspiration biopsies (FNAB) of thyroid nodules with macrocalcifications. Subjects and methods We retrospectively evaluated 269 patients (907 nodules). Macrocalcifications were classified as eggshell and parenchymal macrocalcification. FNAB results were divided into four groups: benign, malignant, suspicious for malignancy, and non-diagnostic. Results There were 79.9% female and 20.1% male and mean age was 56.9 years. Macrocalcification was detected in 46.3% nodules and 53.7% nodules had no macrocalcification. Parenchymal and eggshell macrocalcification were observed in 40.5% and 5.8% nodules, respectively. Cytologically, malignant and suspicious for malignancy rates were higher in nodules with macrocalcification compared to nodules without macrocalcification (p = 0.004 and p = 0.003, respectively). Benign and non-diagnostic cytology results were similar in two groups (p > 0.05). Nodules with eggshell calcification had higher rate of suspicious for malignancy and nodules with parenchymal macrocalcification had higher rates of malignant and suspicious for malignancy compared to those without macrocalcification (p = 0.01, p = 0.003 and p = 0.007, respectively). Conclusions Our findings suggest that macrocalcifications are not always benign and are not associated with increased nondiagnostic FNAB results. Macrocalcification, particularly the parenchymal type should be taken into consideration. Arq Bras Endocrinol Metab. 2014;58(9):939-45


2016 ◽  
Vol 7 (3) ◽  
pp. 356-358
Author(s):  
Syed Nusrath ◽  
Munish Mahajan ◽  
T. Subramanyeshwar Rao ◽  
K. V. V. N. Raju ◽  
Sudha S. Murthy

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