The cytological parameters of 69 indeterminate RAS or BRAF K601E‐positive thyroid nodules were evaluated. Lee YS, Kim Y, Jeon S, Bae JS, Jung SL, Jung CK. The BRAF(K601E) mutation was identified in 39 patients and comprised 5.3% of all BRAF mutations noted in thyroidectomy specimens. BRAF V600E mutations are very unusual, although BRAF K601E mutations may occur. Hematoxylin and eosin stains of thyroid cancer cases harboring new or rare BRAF mutations. Several other genes were frequently mutated in FTCs. BRAF mutations are present in a large number of anaplastic thyroid cancers (a very aggressive tumor that has been challenging to treat), and up to half of papillary thyroid cancers. Molecular genotyping of the non-invasive encapsulated follicular variant of papillary thyroid carcinoma. 2016 Feb;26(2):242-7. doi: 10.1089/thy.2015.0227. Uncommon BRAF mutations in the follicular variant of thyroid papillary carcinoma: New insights. BRAF(K601E) mutation in a patient with a follicular thyroid carcinoma. eCollection 2019. Report of a case and review of the literature. One (K601E) of these non-hotspot mutations occurred in conventional papillary thyroid cancer (CPTC) and other three (T599I, T599dup and K601E) were found in follicular variant PTC. Department of Nuclear Medicine and Endocrine Oncology, Gustave Roussy and Paris Saclay University, Villejuif, France. Interestingly, the p.K601E has been reported in 2 cases of follicular thyroid carcinoma (FTC)9,10 and unexpectedly, Unable to load your collection due to an error, Unable to load your delegates due to an error. This study aimed to investigate the additional diagnostic role of the BRAF V600E mutation in high-risk thyroid nodules with benign cytology results. Twenty-seven out of 29 nodules (93%) with BRAF(K601E) mutated tumors with surgical pathology results available for review were PTC, one (3.4%) was a follicular thyroid carcinoma, and one (3.4%) was a follicular adenoma. Histopathologic, cytologic, and molecular reports over a period of seven years (June 2007 to June 2014) were reviewed to identify thyroid cases with various types of BRAF mutations. A 78-year-old man presented with a nodular lesion 8 cm in size in the right thyroid lobe, coexisting with a goiter. Histopathologic and Clinical Characterization of Thyroid Tumors Carrying the BRAF(K601E) Mutation. 2015 Oct;123(10):593-602. doi: 10.1002/cncy.21586. The BRAF(K601E) mutation should be included in the spectrum of genetic alterations in FTC. The KRAS mutation was more frequently found than the HRAS mutation, comprising 22.9 % of the RAS mutations, and all KRAS mutations were located at codon 61. Most cases activating BRAF mutation involve codon 600 and result in the V600E mutation, and a few cases of other BRAF muta‐ tions occur as K601E mutation, small in-frame inser‐ The BRAF (K601E) mutation should be included in … To the best of our knowledge, the study by Proietti et al is the only one that identified the K601E variant in a series of thyroid FNA cases that categorized the diagnoses according to the BSRTC. Cancer Cytopathol. Accessibility BRAF mutations represent the most common genetic alteration in papillary thyroid carcinoma (PTC). Ohori NP, Singhal R, Nikiforova MN, Yip L, Schoedel KE, Coyne C, McCoy KL, LeBeau SO, Hodak SP, Carty SE, Nikiforov YE. This finding, in the context of the current literature and the recently proposed reclassification of the noninvasive encapsulated follicular variant of papillary thyroid carcinoma into a benign lesion, confirms the importance of preoperative BRAF p.K601E testing in offering patients a tailored treatment plan and avoiding overtreatment. As expected, immunoblot analysis showed activation of the PI3K/Akt pathway. The BRAF p.K601E mutation (occurring in approximately 0.2% of all patients with NSCLC) 11 affects the activation segment of the kinase domain and is thought to decrease kinase auto-inhibition by impairing interaction with the phosphate-binding loop (p-loop). The thyroid cancer-associated (V600E, G474R, and K601E), the melanoma-associated (G596R), and the kinase-dead K483M (BRAF K-) BRAF constructs were obtained by site-directed mutagenesis (Stratagene, La Jolla, CA). Methods: Conclusions: Multi-omics Signatures and Translational Potential to Improve Thyroid Cancer Patient Outcome. Cancer. A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer. The BRAF(K601E) mutation is the second most common BRAF mutation found in thyroid nodules. Unlike BRAF(V600E), the most common mutation, K601E is strongly associated with follicular-patterned cancer, particularly with the encapsulated follicular variant of PTC, and may also be found in follicular th … This led to the FDA approval of combination dabrafenib and trametinib in BRAF V600E mutated anaplastic thyroid cancer. Methods Epub 2012 Aug 7. Unlike the most common BRAF mutation seen in PTC carcinoma (BRAF V600E), this patient's mutation was a BRAF K601E mutation that previously has been associated with some cases of the follicular variant of PTC. Prevention and treatment information (HHS). A and B, FTC with a BRAF K601E mutation. Of 9 PTC patients who had tumor samples from multiple sites, 8 showed concordant BRAF mutation status. 8600 Rockville Pike Of 78 cases with an FNA indeterminate category diagnosis, 51 (65.4 %) were positive for mutations: 24 for BRAF V600E, 3 for BRAF K601E, and 24 for the RAS gene. Correlations between Molecular Landscape and Sonographic Image of Different Variants of Papillary Thyroid Carcinoma. The BRAF V600E is the most commonly reported mutation in patients with PTC [59], while the rarer K601E mutation has been detected in the follicular variant of PTC and benign thyroid adenomas [60]. Thyroid : official journal of the American Thyroid Association 2011-12-6 BRAF(K601E) mutation in a patient with a follicular thyroid carcinoma. BACKGROUND AND PURPOSE: Limitations of ultrasound-guided fine-needle aspiration include nondiagnostic, indeterminate cytology and false-negative results. Quiros RM, Ding HG, Gattuso P, Prinz RA, Xu X. Thereafter, more than 40 mutations of BRAF gene have been identified. 13-15 Compared with p.V600E, its sensitivity to typical BRAF … Diagnosis of malignant, benign or indolent neoplasms was confirmed in each case by histology. 2021 Feb 9;22(4):1726. doi: 10.3390/ijms22041726. Afkhami M, Karunamurthy A, Chiosea S, et al. Hematoxylin and eosin stains of thyroid cancer cases harboring new or rare BRAF mutations. The study’s aim was to evaluate the BRAF mutations’ incidence in an Italian regional population. Left column, original magnification 40 x; right column, original magnification 400 x. BRAF mutations were detected in 15/199 (8%), and a BRAF K601E mutation was identified in 2 follicular adenomas and 1 noninvasive follicular thyroid neoplasm with papillary-like nuclear features. ThyroSeq V3 testing was performed both on the tumor sample and surrounding tissue. Histopathology. Samà MT, Grosso E, Mele C, Laurora S, Monzeglio O, Marzullo P, Boldorini R, Aluffi Valletti P, Aimaretti G, Scatolini M, Pagano L. Endocrine. The BRAF K601E point mutation, which display lower oncogenic activity than BRAF V600E in vitro, is more frequently associated with FVPTC . Unable to load your collection due to an error, Unable to load your delegates due to an error. 2018 Oct;10(10):5904-5912. doi: 10.21037/jtd.2018.09.108. We confirmed the presence of RAS mutations and BRAF K601E mutation in benign, borderline, and malignant follicular-patterned tumors. A and B, FTC with a BRAF K601E mutation. BRAF and CRAF expression vectors were kindly donated by C. J. Marshall. 27 Overall, these studies demonstrated that the majority of cases with a BRAF mutation were … EDITORS’ CHOICE — THYROID CANCER BRAF mutations in pT1 tumors invading the thyroid capsule should be considered a marker of worse prognosis Basolo F, Torregrossa L, Giannini R, Miccoli M, Lupi C, Sensi E, ... BRAF K601E was found in 8 patients (0 .7%), and BRAF VK600-1E Pennelli G, Vianello F, Barollo S, Pezzani R, Merante Boschin I, Pelizzo MR, Mantero F, Rugge M, Mian C. Thyroid. TERT promoter mutation was a strong marker for aggressive thyroid cancer. FOIA National Library of Medicine Molecular diagnostics has offered new techniques for searching for mutations in thyroid indeterminate lesions. Please enable it to take advantage of the complete set of features! A Combinatorial Strategy for Targeting BRAF (V600E)-Mutant Cancers with BRAF(V600E) Inhibitor (PLX4720) and Tyrosine Kinase Inhibitor (Ponatinib). Epub 2015 Dec 17. Jung CK, Kim Y, Jeon S, Jo K, Lee S, Bae JS. Conclusion: Thereafter, more than 40 mutations of BRAF gene have been identified. Int J Clin Exp Pathol. Galuppini F, Vianello F, Censi S, Barollo S, Bertazza L, Carducci S, Colato C, Manso J, Rugge M, Iacobone M, Watutantrige Fernando S, Pennelli G, Mian C. Front Endocrinol (Lausanne). The BRAF(K601E) mutation was confirmed in DNA obtained from different areas of the FTC. RAS, PAX8 / PPARγ or BRAF K601E confers 75 - 90% risk of cancer, most likely follicular variant PTC TERT, p53 or PIK3CA mutation predicts thyroid cancer (almost 100% risk), particularly advanced disease with propensity for dedifferentiation and distant metastasis RET M918T is associated with MTC (very high accuracy) Case has a single minimally invasive focus, marked by arrows. Two different areas of columnar cell variant were tested, with one showing a KRAS p.G12D mutation but no mutation in the other area. PTC is the most common thyroid cancer, accounting for 80% of thyroid malignancies.5 A few other BRAF mutations were also observed in PTC, including BRAF K601E (formerly named BRAF K600E ) and BRAF 599ins mutations, and their oncogenic function were well- On the other hand, the p.K601E mutation is peculiar to the follicular variant of PTC, and seems to be a favorable prognostic indicator. All cases positive for the BRAF(K601E) mutation were reviewed to confirm histopathologic diagnosis and establish tumor variant, and clinical charts were reviewed to obtain clinical characteristics and follow-up information. Another BRAF mutation (K601E) was detected in a follicular adenoma and in some cases of the follicular variant of PTC. Careers. The most common BRAF mutation is the V600E transversion, which causes constitutive kinase activity. Univariate Analysis Odds Ratio (Figure 3B) In univariate analysis that considered the clinical risk factors of patient age and sex, only age at diagnosis was significantly associated with the presence of a BRAF … Clipboard, Search History, and several other advanced features are temporarily unavailable. However, we report a 49-year-old woman who had aggressive follicular variant papillary thyroid carcinoma (FV-PTC) with both the BRAF K601E and BCORL1 mutations. BRAF mutation detection in indeterminate thyroid cytology specimens: underlying cytologic, molecular, and pathologic characteristics of papillary thyroid carcinoma. C and D, PTC with BRAF K601E mutation. A rare 3-base pair insertion was detected in a stage III PTC resulting in duplication of threonine at codon 599 (p.T599dup). 2013 Apr;121(4):197-205. doi: 10.1002/cncy.21229. Summary: Group 1 demonstrated a statistically significant increase in the proportion of tumours displaying aggressive features (65.7% of the nodules) when compared to Group 2 which … Mutations Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. BRAF V600E/K601E and RAS mutational analysis was performed on 187 FVPTCs. Left column, original magnification 40 x; right column, original magnification 400 x. The BRAF(K601E) mutation is the second most common BRAF mutation found in thyroid nodules. BRAF mutations are not found in follicular thyroid cancer, medullary carcinomas, or benign tumors, so the presence of the mutation can help distinguish different types of thyroid cancer. BRAF K601E mutations, and PAX8/PPARG rearrangements, which are common in follicular carcinomas and rare in classical PTC.22 4 | FOLLICULAR THYROID CARCINOMA Follicular thyroid carcinomas account for around 10% or less of thy-roid carcinomas. 2021 Mar 29;12:647369. doi: 10.3389/fendo.2021.647369. Like other nonpediatric thyroid cancer subtypes, many FTCs had mutations in the TERT promoter (71% of tested specimens). Afkhami M, Karunamurthy A, Chiosea S, Nikiforova MN, Seethala R, Nikiforov YE, Coyne C. Thyroid, 26(2):242-247, 17 Dec 2015 Cited by: 36 articles | PMID: 26422023 Three FTC specimens had BRAF K601E mutation and one had previously reported BRAF I592_A598dup mutation . Otherwise, they were minimally invasive or noninvasive cancer. BRAF L597. Unlike BRAF(V600E), the most common mutation, K601E is strongly associated with follicular-patterned cancer, particularly with the encapsulated follicular variant of PTC, and may also be found in follicular thyroid carcinomas. The BRAF K601E mutation occurs in 5% of patients with melanoma, and it is the third most common BRAF mutation [1, 2]. 12 Accordingly, it has been shown to confer increased kinase activity and phosphorylation of downstream MEK in vitro. thyroid pathology, BRAF mutation, BRAF K601E, follicular adenoma, thyroid cancer. 1. BCL6 corepressor like-1 (BCORL1) mutation has rarely been described in thyroid cancer or in association with BRAF mutations in any malignancy. Epub 2015 Jul 31. Clinical utility of EZH1 mutations in the diagnosis of follicular-patterned thyroid tumors. Conclusions: The BRAF K601E mutation is the second most common BRAF mutation found in thyroid nodules. thyroidectomy specimens were BRAF K601E; 93% of them were PTC predominantly FV-PTC, 3.4% were follicular thyroid carcinoma and 3.4% were follicular adenomas.2 Ninety- seven per cent were T1–T2 tumours, with no recurrences or metas-tases if only a single mutation was present. Rossi ED, Martini M, Bizzarro T, Capodimonti S, Cenci T, Lombardi CP, Pontecorvi A, Fadda G, Larocca LM. UMR 8200 CNRS, Gustave Roussy and Paris Saclay University, Villejuif, France. The BRAF K601E mutation should be included … RAS mutations and BRAF K601E were detected in benign, borderline, and malignant follicular-patterned thyroid tumors. Here we present a case of a male with poorly differentiated thyroid carcinoma, with papillary and follicular features, who was noted to have a BRAF K601E mutation. Accessibility The majority of K601E-mutant PTCs (20 cases) were follicular variant PTC. 2005 Jun 1;103(11):2261-8. doi: 10.1002/cncr.21073. BRAF K601E is an inclusion criterion in 3 clinical trials for malignant solid tumor, of which 3 are open and 0 are closed. The last section was stained with hematoxylin and eosin; the tumor area was marked, and the percentage of tumor cells was estimated by a pathologist. 2015 Jul 1;8(7):7988-97. eCollection 2015. However, BRAF mutations are rare in follicular thyroid cancers, and these tumors do not show increased tissue stiffness.
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