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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
  • 7,093 View
  • 41 Download
  • 12 Crossref
AbstractAbstract 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

Citations to this article as recorded by  
  • 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
    Pathology - Research and Practice.2019; 215(12): 152671.     CrossRef
  • Acral melanoma: correlating the clinical presentation to the mutational status
    Giulia M. Ravaioli, Emi Dika, Martina Lambertini, Marco A. Chessa, Pier Alessandro Fanti, Annalisa Patrizi
    Giornale Italiano di Dermatologia e Venereologia.2019;[Epub]     CrossRef
  • Sunrise in melanoma management: Time to focus on melanoma burden in Asia
    John Wen‐Cheng Chang, Jun Guo, Chia‐Yen Hung, Si Lu, Sang Joon Shin, Richard Quek, Anthony Ying, Gwo Fuang Ho, Huu Sau Nguyen, Boman Dhabhar, Virote Sriuranpong, Maria Luisa Tiambeng, Nugroho Prayogo, Naoya Yamazaki
    Asia-Pacific Journal of Clinical Oncology.2017; 13(6): 423.     CrossRef
  • Detection ofBRAF,NRAS,KIT,GNAQ,GNA11andMAP2K1/2mutations in Russian melanoma patients using LNA PCR clamp and biochip analysis
    Marina Emelyanova, Lilit Ghukasyan, Ivan Abramov, Oxana Ryabaya, Evgenia Stepanova, Anna Kudryavtseva, Asiya Sadritdinova, Cholpon Dzhumakova, Tatiana Belysheva, Sergey Surzhikov, Lyudmila Lyubchenko, Alexander Zasedatelev, Tatiana Nasedkina
    Oncotarget.2017; 8(32): 52304.     CrossRef
  • Metaanalysis of BRAF mutations and clinicopathologic characteristics in primary melanoma
    Soo Young Kim, Soo Nyung Kim, Hyung Jin Hahn, Yang Won Lee, Yong Beom Choe, Kyu Joong Ahn
    Journal of the American Academy of Dermatology.2015; 72(6): 1036.     CrossRef
  • Diagnostic Effectiveness of PCR-based Tests DetectingBRAFMutation for Treating Malignant Melanoma: A Systematic Review
    Hae-Won Shin, Ryeo-Jin Ko, Min Lee, Hee-Young Bang, Kye-Chul Kwon, Jong-Woo Park, Sun-Hoe Koo
    Laboratory Medicine Online.2014; 4(4): 203.     CrossRef
  • 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
    Journal of Dermatological Science.2013; 72(3): 284.     CrossRef
Markers for Screening Lynch Syndrome Are Reliable and Useful for Identifying the Specimen Mislabeling
Sun-ju Byeon, Jiwoon Choi, Kyung Han Nam, Bo-Gun Jang, Hee Eun Lee, Min A Kim, Woo Ho Kim
Korean J Pathol. 2012;46(2):131-136.   Published online April 25, 2012
DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.131
  • 6,765 View
  • 49 Download
  • 1 Crossref
AbstractAbstract PDF
Background

During specimen processing in surgical pathology laboratories, specimen-related adverse events (SRAEs), such as mislabeling and specimen mixed-up might occur. In these situations, molecular techniques using short tandem repeat (STR) loci are required to identify the personal identity. Microsatellite instability (MSI) test is widely used for screening the hereditary non-polyposis colon cancer (Lynch syndrome) in surgical pathologies using polymorphic STR markers. We tried to evaluate the applicability of the MSI test for SRAEs.

Methods

We obtained 253 MSI test results to analyze the allele frequencies. After calibrating the estimated nucleotide lengths, we calculated the allele frequencies, a random match probability, and a likelihood ratio (LR) of three dinucleotide STR markers (D5S349, D17S250, and D2S123).

Results

The distribution of LR was 136.38 to 5,606,213.10. There was no case of LR<100. In addition, there were 153 cases (60.5%) of LR ranging from 100 to 10,000 and 100 cases (39.5%) of LR>10,000. Furthermore, the combined probability of identity was 9.23×10-4 and the combined power of exclusion was 0.99908.

Conclusions

Using the three STR markers that are recommended for MSI test, all the cases were positively identified in 1% range and about one-third cases showed high LR (>10,000). These results showed that MSI tests are useful to screen the personal identity in case of SRAE in pathology laboratories.

Citations

Citations to this article as recorded by  
  • Sensitivity and polymorphism of Bethesda panel markers in Chinese population
    Yanying Zheng, Jie Chen, Xiang Zhang, Ling Xie, Yifen Zhang, Yi Sun
    Bulletin du Cancer.2020; 107(11): 1091.     CrossRef

J Pathol Transl Med : Journal of Pathology and Translational Medicine