Comparative Efficiency of Differential Diagnostic Methods for the Identification of BRAF V600E Gene Mutation in Papillary Thyroid Cancer (Review)

Overview

Journal Exp Ther Med

Specialty Pathology

Date 2024 Mar 13

PMID 38476918

Authors

Qian Liu

Xue Jiang

Wenling Tu

Lina Liu

Ying Huang

Yuxiao Xia

Xuliang Xia

Yuhong Shi

Affiliations

Soon will be listed here.

Abstract

V-Raf murine sarcoma viral oncogene homolog B1 (BRAF) encodes a serine-threonine kinase. The V600E point mutation in the BRAF gene is the most common mutation, predominantly occurring in melanoma, and colorectal, thyroid and non-small cell lung cancer. Particularly in the context of thyroid cancer research, it is routinely employed as a molecular biomarker to assist in diagnosing and predicting the prognosis of papillary thyroid cancer (PTC), and to formulate targeted therapeutic strategies. Currently, several methods are utilized in clinical settings to detect BRAF V600E mutations in patients with PTC. However, the sensitivity and specificity of various detection techniques vary significantly, resulting in diverse detection outcomes. The present review highlights the advantages and disadvantages of the methods currently employed in medical practice, with the aim of guiding clinicians and researchers in selecting the most suitable detection approach for its high sensitivity, reproducibility and potential to develop targeted therapeutic regimens for patients with BRAF gene mutation-associated PTC.

Citing Articles

extract inhibits non-small cell lung cancer proliferation and induces apoptosis via inhibiting the MAPK (Ras/Raf) and Akt pathways.

Ma C, Yin J, Feng X, Wang X, Cao X, Zhang C Heliyon. 2024; 10(16):e36032.

PMID: 39229537 PMC: 11369428. DOI: 10.1016/j.heliyon.2024.e36032.

Deciphering the Role of BRAFV600E Immunohistochemistry in Breast Lesions: A Comprehensive Review.

Khan S, Bhake A, Sagar S Cureus. 2024; 16(7):e64872.

PMID: 39156294 PMC: 11330685. DOI: 10.7759/cureus.64872.

References

McEvoy A, Wood B, Ardakani N, Pereira M, Pearce R, Cowell L . Droplet Digital PCR for Mutation Detection in Formalin-Fixed, Paraffin-Embedded Melanoma Tissues: A Comparison with Sanger Sequencing and Pyrosequencing. J Mol Diagn. 2018; 20(2):240-252. DOI: 10.1016/j.jmoldx.2017.11.009. View

Rossle M, Sigg M, Ruschoff J, Wild P, Moch H, Weber A . Ultra-deep sequencing confirms immunohistochemistry as a highly sensitive and specific method for detecting BRAF V600E mutations in colorectal carcinoma. Virchows Arch. 2013; 463(5):623-31. DOI: 10.1007/s00428-013-1492-3. View

Landa I, Knauf J . Mouse Models as a Tool for Understanding Progression in Braf-Driven Thyroid Cancers. Endocrinol Metab (Seoul). 2019; 34(1):11-22. PMC: 6435851. DOI: 10.3803/EnM.2019.34.1.11. View

Li W, Zhou J, Xu L, Su X, Liu Q, Pang H . Identification of Genes Associated with Papillary Thyroid Carcinoma (PTC) for Diagnosis by Integrated Analysis. Horm Metab Res. 2016; 48(4):226-31. DOI: 10.1055/s-0035-1569289. View

Fisher K, Neill S, Ehsani L, Caltharp S, Siddiqui M, Cohen C . Immunohistochemical Investigation of BRAF p.V600E mutations in thyroid carcinoma using 2 separate BRAF antibodies. Appl Immunohistochem Mol Morphol. 2014; 22(8):562-7. DOI: 10.1097/PAI.0b013e3182a2f75f. View

Cohen Y, Xing M, Mambo E, Guo Z, Wu G, Trink B . BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst. 2003; 95(8):625-7. DOI: 10.1093/jnci/95.8.625. View

Harrington C, Lin E, Olson M, Eshleman J . Fundamentals of pyrosequencing. Arch Pathol Lab Med. 2013; 137(9):1296-303. DOI: 10.5858/arpa.2012-0463-RA. View

Martinez J, Vargas-Salas S, Gamboa S, Munoz E, Dominguez J, Leon A . The Combination of RET, BRAF and Demographic Data Identifies Subsets of Patients with Aggressive Papillary Thyroid Cancer. Horm Cancer. 2019; 10(2-3):97-106. PMC: 10355709. DOI: 10.1007/s12672-019-0359-8. View

Kesby N, Papachristos A, Gild M, Aniss A, Sywak M, Clifton-Bligh R . Outcomes of Advanced Medullary Thyroid Carcinoma in the Era of Targeted Therapy. Ann Surg Oncol. 2021; 29(1):64-71. DOI: 10.1245/s10434-021-10980-5. View

10.

Tian H, Zhang X, Wang Z, Chen J, Chen S, Guo W . Establishment and application of a multiplex genetic mutation-detection method of lung cancer based on MassARRAY platform. Cancer Biol Med. 2016; 13(1):68-76. PMC: 4850129. DOI: 10.28092/j.issn.2095-3941.2015.0094. View

11.

Ihle M, Fassunke J, Konig K, Grunewald I, Schlaak M, Kreuzberg N . Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations. BMC Cancer. 2014; 14:13. PMC: 3893431. DOI: 10.1186/1471-2407-14-13. View

12.

Capper D, Berghoff A, Magerle M, Ilhan A, Wohrer A, Hackl M . Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. Acta Neuropathol. 2011; 123(2):223-33. DOI: 10.1007/s00401-011-0887-y. View

13.

Tanda E, Vanni I, Boutros A, Andreotti V, Bruno W, Ghiorzo P . Current State of Target Treatment in BRAF Mutated Melanoma. Front Mol Biosci. 2020; 7:154. PMC: 7371970. DOI: 10.3389/fmolb.2020.00154. View

14.

Yin L, Tang Y, Yu S, Wang C, Xiao M, Wang Y . The Role of BRAF V600E in Reducing AUS/FLUS Diagnosis in Thyroid Fine Needle Aspiration. Endocr Pathol. 2019; 30(4):312-317. DOI: 10.1007/s12022-019-09591-4. View

15.

Beaubier N, Tell R, Lau D, Parsons J, Bush S, Perera J . Clinical validation of the tempus xT next-generation targeted oncology sequencing assay. Oncotarget. 2019; 10(24):2384-2396. PMC: 6481324. DOI: 10.18632/oncotarget.26797. View

16.

Malicherova B, Burjanivova T, Grendar M, Minarikova E, Bobrovska M, Vanova B . Droplet digital PCR for detection of mutation in formalin-fixed, paraffin-embedded melanoma tissues: a comparison with Cobas 4800, Sanger sequencing, and allele-specific PCR. Am J Transl Res. 2019; 10(11):3773-3781. PMC: 6291720. View

17.

SANGER F, Nicklen S, Coulson A . DNA sequencing with chain-terminating inhibitors. 1977. Biotechnology. 1992; 24:104-8. View

18.

Hong B, Winkel A, Stumpp N, Abdallat M, Saryyeva A, Runge J . Detection of bacterial DNA on neurostimulation systems in patients without overt infection. Clin Neurol Neurosurg. 2019; 184:105399. DOI: 10.1016/j.clineuro.2019.105399. View

19.

Tetzlaff M, Pattanaprichakul P, Wargo J, Fox P, Patel K, Estrella J . Utility of BRAF V600E Immunohistochemistry Expression Pattern as a Surrogate of BRAF Mutation Status in 154 Patients with Advanced Melanoma. Hum Pathol. 2015; 46(8):1101-10. PMC: 4515190. DOI: 10.1016/j.humpath.2015.04.012. View

20.

Lung J, Hung M, Lin Y, Jiang Y, Fang Y, Lu M . A highly sensitive and specific real-time quantitative PCR for BRAF V600E/K mutation screening. Sci Rep. 2020; 10(1):16943. PMC: 7547094. DOI: 10.1038/s41598-020-72809-7. View