Journal of Pathology and Translational Medicine

Original Articles

A study of pathological characteristics and BRAF V600E status in Langerhans cell histiocytosis of Vietnamese children: Thu Dang Anh Phan, Bao Gia Phung, Tu Thanh Duong, Vu Anh Hoang, Dat Quoc Ngo, Nguyen Dinh The Trinh, Tung Thanh Tran; J Pathol Transl Med. 2021;55(2):112-117. Published online January 27, 2021; DOI: https://doi.org/10.4132/jptm.2020.11.30

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Background
Langerhans cell histiocytosis (LCH) is more common in children than adults and involves many organs. In children, the BRAF V600E mutation is associated with recurrent and high-risk LCH.
Methods
We collected paraffin blocks of 94 pediatric LCH patients to detect BRAF V600E mutation by sequencing. The relationship between BRAF V600E status and clinicopathological parameters were also critically analyzed.
Results
BRAF V600E mutation exon 15 was detected in 45 cases (47.9%). Multiple systems LCH showed a significantly higher BRAF V600E mutation rate than a single system (p=.001). No statistical significance was evident for other clinical characteristics such as age, sex, location, risk organs involvement, and CD1a expression.
Conclusions
In Vietnamese LCH children, the proportion of BRAF V600E mutational status was relatively high and related to multiple systems.

Citations

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Sulfur dots/Au@Ag nanorods array-based polarized ECL sensor for the detection of thyroid cancer biomarker
Zixuan Ding, Peilin Wang, Zhenrun Li, Yupeng Guo, Qiang Ma
Talanta.2023; 265: 124925. CrossRef

Utility of BRAF VE1 Immunohistochemistry as a Screening Tool for Colorectal Cancer Harboring BRAF V600E Mutation: Jeong-Hwa Kwon, Byung-Kwan Jeong, Yong Sik Yoon, Chang Sik Yu, Jihun Kim; J Pathol Transl Med. 2018;52(3):157-163. Published online March 29, 2018; DOI: https://doi.org/10.4132/jptm.2018.03.28

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Abstract PDF Supplementary Material

Background
BRAF mutation has been recognized as an important biomarker of colorectal cancer (CRC) for targeted therapy and prognosis prediction. However, sequencing for every CRC case is not cost-effective. An antibody specific for BRAF V600E mutant protein has been introduced, and we thus examined the utility of BRAF VE1 immunohistochemistry for evaluating BRAF mutations in CRC.
Methods
Fifty-one BRAF-mutated CRCs and 100 age and sexmatched BRAF wild-type CRCs between 2005 and 2015 were selected from the archives of Asan Medical Center. Tissue microarrays were constructed and stained with BRAF VE1 antibody.
Results
Forty-nine of the 51 BRAF-mutant CRCs (96.1%) showed more than moderate cytoplasmic staining, except for two weakly stained cases. Six of 100 BRAF wild-type cases also stained positive with BRAF VE1 antibody; four stained weakly and two stained moderately. Normal colonic crypts showed nonspecific weak staining, and a few CRC cases exhibited moderate nuclear reactivity (3 BRAF-mutant and 10 BRAF wild-type cases). BRAF-mutated CRC patients had higher pathologic stages and worse survival than BRAF wild-type patients.
Conclusions
BRAF VE1 immunohistochemistry showed high sensitivity and specificity, but occasional nonspecific staining in tumor cell nuclei and normal colonic crypts may limit their routine clinical use. Thus, BRAF VE1 immunohistochemistry may be a useful screening tool for BRAF V600E mutation in CRCs, provided that additional sequencing studies can be done to confirm the mutation in BRAF VE1 antibody-positive cases.

Citations

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Immunohistochemistry as a Surrogate Marker of Underlying Molecular Derangements in Sporadic Colorectal Carcinoma in Children – A Series of Three Cases
Priyanka Maity, Aniket Halder, Ranajoy Ghosh, Uttara Chatterjee, Shibsankar Barman, Ruchirendra Sarkar
Fetal and Pediatric Pathology.2022; 41(1): 98. CrossRef
Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Spring Holter, Michael J. Hall, Heather Hampel, Kory Jasperson, Sonia S. Kupfer, Joy Larsen Haidle, Maureen E. Mork, Selvi Palaniapppan, Leigha Senter, Elena M. Stoffel, Scott M. Weissman, Matthew B. Yurgelun
Journal of Genetic Counseling.2022; 31(3): 568. CrossRef
Current concepts in ameloblastoma-targeted therapies in B-raf proto-oncogene serine/threonine kinase V600E mutation: Systematic review
Rogelio González-González, Sandra López-Verdín, Jesús Lavalle-Carrasco, Nelly Molina-Frechero, Mario Isiordia-Espinoza, Ramón G Carreón-Burciaga, Ronell Bologna-Molina
World Journal of Clinical Oncology.2020; 11(1): 31. CrossRef
Genetic and histopathological analysis of a case of primary intraosseous carcinoma, NOS with features of both ameloblastic carcinoma and squamous cell carcinoma
Akane Yukimori, Maiko Tsuchiya, Akane Wada, Yasuyuki Michi, Kou Kayamori, Kei Sakamoto, Tohru Ikeda
World Journal of Surgical Oncology.2020;[Epub] CrossRef

Evaluation of the VE1 Antibody in Thyroid Cytology Using Ex Vivo Papillary Thyroid Carcinoma Specimens: Yon Hee Kim, Hyunee Yim, Yong-Hee Lee, Jae Ho Han, Kyi Beom Lee, Jeonghun Lee, Euy Young Soh, Seon-Yong Jeong, Jang-Hee Kim; J Pathol Transl Med. 2016;50(1):58-66. Published online December 14, 2015; DOI: https://doi.org/10.4132/jptm.2015.10.10

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Abstract PDF

Background
Recently, VE1, a monoclonal antibody against the BRAFV600E mutant protein, has been investigated in terms of its detection of the BRAFV600E mutation. Although VE1 immunostaining and molecular methods used to assess papillary thyroid carcinoma in surgical specimens are in good agreement, evaluation of VE1 in thyroid cytology samples is rarely performed, and its diagnostic value in cytology has not been well established. In present study, we explored VE1 immunoexpression in cytology samples from ex vivo papillary thyroid carcinoma specimens in order to minimize limitations of low cellularity and sampling/targeting errors originated from thyroid fineneedle aspiration and compared our results with those obtained using the corresponding papillary thyroid carcinoma tissues. Methods: The VE1 antibody was evaluated in 21 cases of thyroid cytology obtained directly from ex vivo thyroid specimens. VE1 immunostaining was performed using liquid-based cytology, and the results were compared with those obtained using the corresponding tissues. Results: Of 21 cases, 19 classic papillary thyroid carcinomas had BRAFV600E mutations, whereas two follicular variants expressed wild-type BRAF. VE1 immunoexpression varied according to specimen type. In detection of the BRAFV600E mutation, VE1 immunostaining of the surgical specimen exhibited 100% sensitivity and 100% specificity, whereas VE1 immunostaining of the cytology specimen exhibited only 94.7% sensitivity and 0% specificity. Conclusions: Our data suggest that VE1 immunostaining of a cytology specimen is less specific than that of a surgical specimen for detection of the BRAFV600E mutation, and that VE1 immunostaining of a cytology specimen should be further evaluated and optimized for clinical use.

Citations

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VE1 immunohistochemistry is an adjunct tool for detection of BRAFV600E mutation: Validation in thyroid cancer patients
Faiza A. Rashid, Sobia Tabassum, Mosin S. Khan, Hifzur R. Ansari, Muhammad Asif, Ahmareen K. Sheikh, Syed Sameer Aga
Journal of Clinical Laboratory Analysis.2021;[Epub] CrossRef
Effective utilization of liquid-based cytology for thyroid lesions
Yukie YAMAYA
The Journal of the Japanese Society of Clinical Cytology.2021; 60(3): 164. CrossRef
Diagnostic efficacy of brafv600e immunocytochemistry in thyroid aspirates in bethesda category iv and papillary thyroid carcinoma
Nidhi Anand, Tushar Agrawal, Anurag Gupta, Saumya Shukla, Roma Pradhan, Nuzhat Husain
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The immunocytochemical expression of VE‐1 (BRAF V600E‐related) antibody identifies the aggressive variants of papillary thyroid carcinoma on liquid‐based cytology
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Utility of the BRAF p.V600E immunoperoxidase stain in FNA direct smears and cell block preparations from patients with thyroid carcinoma
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Transplant International.2017; 30(4): 398. CrossRef
Thyroid Fine-Needle Aspiration Cytology Practice in Korea
Yoon Jin Cha, Ju Yeon Pyo, SoonWon Hong, Jae Yeon Seok, Kyung-Ju Kim, Jee-Young Han, Jeong Mo Bae, Hyeong Ju Kwon, Yeejeong Kim, Kyueng-Whan Min, Soonae Oak, Sunhee Chang
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Use of monoclonal antibodies to detect specific mutations in formalin-fixed, paraffin-embedded tissue sections
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Review

Dysembryoplastic Neuroepithelial Tumors: Yeon-Lim Suh; J Pathol Transl Med. 2015;49(6):438-449. Published online October 23, 2015; DOI: https://doi.org/10.4132/jptm.2015.10.05

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Abstract PDF

Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Radiologically, this tumor is characterized by a cortical topography and lack of mass effect or perilesional edema. Partial complex seizures are the most common presentation. Three histologic subtypes of DNTs have been described. Histologically, the recognition of a unique, specific glioneuronal element in brain tumor samples from patients with medically intractable, chronic epilepsy serves as a diagnostic feature for complex or simple DNT types. However, nonspecific DNT has diagnostic difficulty because its histology is indistinguishable from conventional gliomas and because a specific glioneuronal element and/or multinodularity are absent. This review will focus on the clinical, radiographic, histopathological, and immunohistochemical features as well as the molecular genetics of all three variants of DNTs. The histological and cytological differential diagnoses for this lesion, especially the nonspecific variant, will be discussed.

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Original Articles

Frequency of BRAF Mutation and Clinical Relevance for Primary Melanomas: Hyoun Wook Lee, Ki Hoon Song, Jin Woo Hong, Su Young Jeon, Dong Yeob Ko, Ki Ho Kim, Hyuk Chan Kwon, Suee Lee, Sung Hyun Kim, Dae Cheol Kim; Korean J Pathol. 2012;46(3):246-252. Published online June 22, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.3.246

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Abstract PDF

Background

This study was conducted to clarify the frequency of the BRAF mutation in primary melanomas and its correlation with clinicopathologic parameters.

Methods

We analyzed the frequency of BRAF mutation in patients with primary cutaneous melanoma (n=58) or non-cutaneous one (n=27) by performing dual priming oligonucleotide-based multiplex real-time polymerase chain reaction to isolate and to purify the DNA from the formalin-fixed and paraffin-embedded tumors.

Results

The BRAF mutation was found in 17.2% (10/58) of patients with primary cutaneous melanoma and 11.1% (3/27) of those with non-cutaneous melanoma. The frequency of BRAF mutation was not correlated with any clinicopathologic parameters with the exception of the patient age. The frequency of the BRAF mutation was significantly higher in patients younger than 60 years as compared with those older than 60 years (p=0.005).

Conclusions

Compared with previous reports, our results showed that the frequency of the BRAF mutation was relatively lower in patients with primary cutaneous melanoma. Besides, our results also showed that the frequency of the BRAF mutation had an inverse correlation with the age. Further studies are warranted to exclude methodological bias, to elucidate the difference in the frequency of the BRAF mutation from the previous reports from a Caucasian population and to provide an improved understanding of the molecular pathogenesis of malignant melanoma.

Citations

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Clinicopathological Features of Patients with Malignant Melanoma Diagnosis and Prognostic and Predictive Importance of Neuthrophil-Lymphocyte Ratio
Yasemin SAĞDIÇ KARATEKE, Lütfiye DEMİR, Murat DİNÇER, Bülent YILDIZ
OSMANGAZİ JOURNAL OF MEDICINE.2023;[Epub] CrossRef
Genetic characteristics and response to systemic therapies of acral lentiginous melanoma at a tertiary care center—a retrospective review
Taylor Jamerson, Vito W. Rebecca, Crystal Aguh
Journal of the National Medical Association.2022; 114(1): 7. CrossRef
Comparative study of cutaneous melanoma and its associated issues between people of African decent and Caucasians
Ehiaghe L. Anaba
Dermatologic Therapy.2021;[Epub] CrossRef
BRAF, KIT, and NRAS Mutations of Acral Melanoma in White Patients
Emi Dika, Giulia Veronesi, Annalisa Altimari, Mattia Riefolo, Giulia Maria Ravaioli, Bianca Maria Piraccini, Martina Lambertini, Elena Campione, Elisa Gruppioni, Michelangelo Fiorentino, Barbara Melotti, Manuela Ferracin, Annalisa Patrizi
American Journal of Clinical Pathology.2020; 153(5): 664. CrossRef
Clinical Application of Next-Generation Sequencing–Based Panel to BRAF Wild-Type Advanced Melanoma Identifies Key Oncogenic Alterations and Therapeutic Strategies
Changhee Park, Miso Kim, Min Jung Kim, Hyeongmin Kim, Chan-Young Ock, Bhumsuk Keam, Tae Min Kim, Dong-Wan Kim, Jong-Il Kim, Dae Seog Heo
Molecular Cancer Therapeutics.2020; 19(3): 937. CrossRef
BRAF and NRAS mutations and antitumor immunity in Korean malignant melanomas and their prognostic relevance: Gene set enrichment analysis and CIBERSORT analysis
Kyueng-Whan Min, Ji-Young Choe, Mi Jung Kwon, Hye Kyung Lee, Ho Suk Kang, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Yun Joong Kim, Nan Young Kim, Ho Young Kim
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Acral melanoma: correlating the clinical presentation to the mutational status
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KIT, NRAS, BRAF and PTEN mutations in a sample of Swedish patients with acral lentiginous melanoma
Abdlsattar Zebary, Katarina Omholt, Ismini Vassilaki, Veronica Höiom, Diana Lindén, Lisa Viberg, Lena Kanter-Lewensohn, Carolina Hertzman Johansson, Johan Hansson
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Detection of BRAF^V600E Mutations in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-Time PCR: A Comparison with Direct Sequencing: Dongjun Jeong, Yujun Jeong, Sungche Lee, Hyeran Lee, Wanju Lee, Hyungjoo Kim, Doosan Park, Soyoung Park, Wenxia Mu, Hyun-Deuk Cho, Mee-Hye Oh, Sung Soo Lee, Seung-Ha Yang, Chang-Jin Kim; Korean J Pathol. 2012;46(1):61-67. Published online February 23, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.1.61

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Abstract PDF

Background

Papillary thyroid carcinoma (PTC) of the thyroid is the most common endocrine malignancy. High prevalence of an activating point mutation of BRAF gene, BRAF^V600E, has been reported in PTC. We assessed the efficiency of peptide nucleic acid clamp real-time polymerase chain reaction (PNAcqPCR) for the detection of BRAF^V600E mutation in PTC in comparison with direct sequencing (DS).

Methods

A total of 265 thyroid lesions including 200 PTCs, 5 follicular carcinomas, 60 benign lesions and 10 normal thyroid tissues were tested for BRAF^V600E mutation by PNAcqPCR and DS.

Results

The sensitivity and accuracy of the PNAcqPCR method were both higher than those of DS for the detection of the BRAF^V600E mutation. In clinical samples, 89% of PTCs harbored the BRAF^V600E mutation, whereas 5 follicular carcinomas, 50 benign lesions and 10 normal thyroid tissues lacked the mutation. The mutation was associated with aggressive clinical behaviors as extrathyroid invasion (p=0.015), lymph node metastasis (p=0.002) and multiple tumor numbers (p=0.016) with statistical significance.

Conclusions

The PNAcqPCR method is efficiently applicable for the detection of the BRAF^V600E mutation in PTCs in a clinical setting.

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The association between BRAF V600E mutation and pathological features in PTC
Xin Liu, Kangkang Yan, Xuejun Lin, Longyu Zhao, Wenxiu An, Chunpeng Wang, Xiaodong Liu
European Archives of Oto-Rhino-Laryngology.2014; 271(11): 3041. CrossRef
Recurrent Thyroid Papillary Carcinoma in Children Under Ten Years Old: Report of Two Cases and Literature Review
Byeong-Joo Noh, Ji-Youn Sung, Youn-Wha Kim, Yong-Koo Park
Korean Journal of Pathology.2014; 48(4): 297. CrossRef
KRASMutation Detection in Non-small Cell Lung Cancer Using a Peptide Nucleic Acid-Mediated Polymerase Chain Reaction Clamping Method and Comparative Validation with Next-Generation Sequencing
Boram Lee, Boin Lee, Gangmin Han, Mi Jung Kwon, Joungho Han, Yoon-La Choi
Korean Journal of Pathology.2014; 48(2): 100. CrossRef
VE1 immunohistochemistry in pituitary adenomas is not associated with BRAF V600E mutation
Jan Sperveslage, Midea Gierke, David Capper, Jürgen Honegger, Bence Sipos, Rudi Beschorner, Jens Schittenhelm
Acta Neuropathologica.2013; 125(6): 911. CrossRef
BRAF Mutations in Iranian Patients with Papillary Thyroid Carcinoma
Nastran Ranjbari, Sara Almasi, Javad Mohammadi-asl, Fakher Rahim
Asian Pacific Journal of Cancer Prevention.2013; 14(4): 2521. CrossRef

Case Report

Cytologic Features and BRAF Mutation of Hyalinizing Trabecular Adenoma of the Thyroid: A Case Report with Review of the Literature.: Se Min Jang, Young Ha Oh, Yoon Kyung Jeon, Yong Wook Park, Moon Hyang Park; Korean J Pathol. 2011;45(4):428-433.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.4.428

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Abstract PDF

A hyalinizing trabecular adenoma (HTA) is a rare benign thyroid tumor of follicular epithelial cell origin with a trabecular-alveolar growth pattern and marked intratrabecular hyalinization. The cytological and histological features of HTA are very similar to those of papillary and medullary carcinomas of the thyroid. Therefore, an accurate diagnosis of HTA is important to avoid unnecessary and potentially harmful management of patients. However, the results of BRAF gene mutation analysis shown by many studies are distinctly different between HTAs and papillary thyroid carcinomas. Herein, we describe a rare case of HTA of the thyroid in a 49-year-old female and consider its characteristic cytological features and BRAF gene mutation analysis results with a brief review of the literature.

Citations

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Hyalinizing trabecular tumor, a rare histologically unique tumor of the thyroid, coexisting with papillary thyroid carcinoma
Chiu-Hsuan Cheng
Tzu Chi Medical Journal.2021; 33(2): 198. CrossRef
A Case of Hyalinizing Trabecular Tumor of the Thyroid Gland
Kun Woo Kim, Sang Joon Lee, Phil-Sang Chung, Junghwan Moon
Korean Journal of Otorhinolaryngology-Head and Neck Surgery.2012; 55(12): 795. CrossRef

Original Articles

Clinical Usefulness of SurePath(TM) Liquid-based Cytology in Thyroid Fine Needle Aspiration: Comparison with the Conventional Smear in Diagnostic Efficacy and Applicability of BRAF Mutation Test.: Wook Youn Kim, Sang Hwa Lee, Young Sin Ko, So Dug Lim, Wan Seop Kim, Hye Seung Han, Hye Sil Seol, Seo Young Oh, Won Jin Moon, Tae Sook Hwang; Korean J Pathol. 2011;45(2):188-195.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.2.188

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Abstract PDF

BACKGROUND
Recently, liquid-based cytology (LBC) has been introduced as an alternative to the conventional smear (CS) technique in thyroid fine needle aspiration, due to its diagnostic convenience.
METHODS
We assessed 77 cases of thyroid fine needle aspiration using the SurePath(TM) method (SP) as LBC and CS via split-sample techniques. BRAF mutation tests were carried out via polymerase chain reaction and pyrosequencing immediately after diagnosis or a delay of more than one year.
RESULTS
In a comparison between SP and CS, the rate of concordance between SP and CS was as high as 84.4% (kappa value, 0.754). In comparison with histologic diagnosis, the overall sensitivity was 100% for both. The specificity was 62.5% for SP and 56.3% for CS. Relative to CS, papillary carcinomas on SP slides revealed more accentuated nuclear irregularities, nucleoli, and reduced nuclear size. In contrast to CS, the delayed BRAFV600E mutation test using SP slides after 1-2 years failed. The use of new primers amplifying shorter product size could help the delayed test achieve success.
CONCLUSIONS
Differences in the diagnostic efficacy of SP and CS were negligible. The failure of the delayed BRAF mutation test on the SP slides might be associated with DNA degradation.

Citations

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Comparison of Liquid-Based Preparations with Conventional Smears in Thyroid Fine-Needle Aspirates: A Systematic Review and Meta-Analysis
Yun Jin Kang, Hyeon Woo Lee, Gulnaz Stybayeva, Se Hwan Hwang
Cancers.2024; 16(4): 751. CrossRef
Liquid‐based cytology of pigmented phaeohyphomycotic lesion of the palm masquerading as a metastatic tumor
Thara Keloth, Debasis Gochhait, S Sivaranjani, Neelaiah Siddaraju
Diagnostic Cytopathology.2019; 47(8): 828. CrossRef
DNA degradation in liquid‐based cytology and its comparison with conventional smear
Wook Youn Kim, Seo Young Oh, Hyunkyung Kim, Tae Sook Hwang
Diagnostic Cytopathology.2016; 44(5): 450. CrossRef
Comparison of EASYPREP® and SurePath® in thyroid fine‐needle aspiration
Yosep Chong, Ki Hyun Baek, Jee Young Kim, Tae‐Jung Kim, Eun Jung Lee, Chang Suk Kang
Diagnostic Cytopathology.2016; 44(4): 283. CrossRef
Conventional smears versus liquid-based preparations for thyroid fine-needle aspirates: a systematic review and meta-analysis
Neeraja Nagarajan, Alireza Najafian, Eric B. Schneider, Martha A. Zeiger, Matthew T. Olson
Journal of the American Society of Cytopathology.2015; 4(5): 253. CrossRef
Liquid‐based cytology improves preoperative diagnostic accuracy of the tall cell variant of papillary thyroid carcinoma
Sung Hak Lee, Chan Kwon Jung, Ja Seong Bae, So Lyung Jung, Yeong Jin Choi, Chang Suk Kang
Diagnostic Cytopathology.2014; 42(1): 11. CrossRef
Stability of DNA, RNA, cytomorphology, and immunoantigenicity in Residual ThinPrep® Specimens
Younghye Kim, Kap Ro Choi, Moon Jung Chae, Bong Kyung Shin, Han Kyeom Kim, Aeree Kim, Baek‐hui Kim
APMIS.2013; 121(11): 1064. CrossRef
The Development of the Liquid Cell Smear Device for Liquid-Based Cytology Test
Han Yeong Oh, Ha Ju So, Seong Hyun Kim, Dong Wook Kim, Hyun Chang Kim
Applied Mechanics and Materials.2013; 284-287: 1564. CrossRef

The Frequency of BRAF Mutation in Very Small Papillary Thyroid Carcinomas.: Taeeun Kim, Ji Hyun Roh, Hee Jung Park, Jee Eun Kwon, So Young Kang, Yoon La Choi, Young Lyun Oh; Korean J Pathol. 2010;44(3):308-314.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.3.308

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Abstract PDF

BACKGROUND
Papillary thyroid carcinoma (PTC) is the most common malignant tumor of the thyroid and BRAF (V600E) is the most frequent genetic alteration in PTCs. The aim of this study was to investigate the frequency of BRAF mutation, especially in very small PTCs.
METHODS
We analyzed the presence of the BRAF mutation in PTCs in subgroups defined by tumor size (0.5 cm intervals).
RESULTS
Of 140 patients, 85 (60.7%) showed a BRAF mutation. The frequency of BRAF mutation in the subgroup was: 45/70 (64.3%) in tumors less than 0.5 cm in size, 18/28 (64.3%) in 0.6-1 cm tumors, 10/22 (45.5%) in 1.1-1.5 cm tumors, and 12/20 (60.0%) in 1.6-2 cm tumors. There was no statistically significant association between BRAF mutation and tumor size (p = 0.44). Similarly, BRAF mutation was not statistically related to age, sex, stage, perithyroidal extension or lymph node metastasis. On multivariate logistic regression analysis, tumor sizes larger than 0.5 cm were associated with lymph node metastasis (odds ratio, 3.79; 95% confidence interval, 1.81 to 7.91; p < 0.01).
CONCLUSIONS
The BRAF mutation is not related to tumor size even in very small PTCs. The similar frequency of BRAF mutation in very small PTCs suggests that the BRAF mutation is a very early event in the tumorigenesis of PTCs.

Citations

Citations to this article as recorded by

BRAF mutation detection in indeterminate thyroid cytology specimens
N. Paul Ohori, Rashi Singhal, Marina N. Nikiforova, Linwah Yip, Karen E. Schoedel, Christopher Coyne, Kelly L. McCoy, Shane O. LeBeau, Steven P. Hodak, Sally E. Carty, Yuri E. Nikiforov
Cancer Cytopathology.2013; 121(4): 197. CrossRef
BRAFV600E mutation does not serve as a prognostic factor in Korean patients with papillary thyroid carcinoma
Dongbin Ahn, June Sik Park, Jin Ho Sohn, Jae Hyug Kim, Sun-Kyun Park, An Na Seo, Ji Young Park
Auris Nasus Larynx.2012; 39(2): 198. CrossRef
Mutational Patterns and Novel Mutations of the BRAF Gene in a Large Cohort of Korean Patients with Papillary Thyroid Carcinoma
Chan-Kwon Jung, So-Young Im, Yeo-Ju Kang, Hyoungnam Lee, Eun-Sun Jung, Chang-Suk Kang, Ja-Seong Bae, Yeong-Jin Choi
Thyroid.2012; 22(8): 791. CrossRef

Galectin-3 Expression and BRAF Mutation in Cases of Cytologically Suspicious Papillary Thyroid Carcinoma.: Dokyung Kim, Hyunki Kim, Jinyoung Kwak, Minju Kim, Hyung Jae Jung, Ja Seung Koo, Beom Jin Lim, Chankwon Jung, SoonWon Hong; Korean J Pathol. 2010;44(2):191-198.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.2.191

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Abstract PDF: BACKGROUND
Fine needle aspiration, which is known as the most accurate and cost-effective method for diagnosis of thyroid nodule, still may result in indeterminate cases that are pauci-cellular and show minor nuclear atypia, but most cases are associated with suspicion of papillary thyroid carcinoma (PTC). A B-type Raf kinase (BRAF) mutation was found in about half of PTCs and galectin-3 was expressed by malignant tumors, helping us to differentiate malignancies from benign lesions.
METHODS
Cases studied included histologically 44 confirmed PTC cases and 18 benign cases previously diagnosed as suspicious of PTC using cytologic examination. Cases were analyzed for galectin-3 expression by immunohistochemical staining and BRAF mutation by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with a new restriction enzyme.
RESULTS
All 44 cases of PTC and 8 of 18 benign controls expressed galectin-3. BRAF mutations were found in only 9 of the 44 PTC cases. Assessment of galectin-3 expression demonstrated high sensitivity but low specificity. Evaluation of BRAF mutation revealed high specificity and low sensitivity.
CONCLUSIONS
This study suggests that the combined application of these two methods for PTC of suspicious cytology is complementary.

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