BRAFV600E mutational status assessment in cutaneous melanocytic neoplasms in a group of the Egyptian population

Cancer Cell International

Research

Hassan Mahmoud Kholosy¹  Doaa A. Abdelmonsif²  Nada M. Yakout³  Dina M. Abdallah³  Omayma Elsakka³  Iman M. Talaat⁴ 

[1] Department of Plastic Surgery, Faculty of Medicine, Alexandria University, Alexandria, Egypt;Medical Biochemistry Department, Genomics Research Lab, Faculty of Medicine, Alexandria University, Alexandria, Egypt;Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt;Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt;Clinical Sciences Department, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates;

关键词: Melanoma;    BRAFV600E;    Bleaching;    Egyptian;    Immunohistochemistry;   

DOI  :  10.1186/s12935-023-02858-1

 received in 2022-09-08, accepted in 2023-01-24,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundMelanocytic neoplasms range from banal nevi to malignant melanomas. The genetic background has been extensively studied in the Caucasian population. BRAF mutations were reported among the early driver mutations in nevogenesis. Nevertheless, the pathogenesis in the Egyptian population has not been elucidated.Aim and MethodsThe present study was carried out to assess the sensitivity and specificity of immunohistochemistry (IHC) using the RM-08 clone in reference to allele-specific real-time PCR (CAST-PCR) for the detection of the BRAF V600E mutation in 50 formalin-fixed paraffin-embedded blocks of melanocytic neoplasms with prior bleaching using hydrogen peroxide in Tris-HCL and Bovine Serum Albumin respectively.ResultsIHC staining was interpreted using staining reaction (positive versus negative) and staining pattern (negative and heterogeneous versus homogenous). Using the staining pattern, the specificity increased from 73.3 to 88.2%, the negative predictive value increased from 73.3 to 100%, the diagnostic accuracy increased from 71.4 to 90.48% and the overall accuracy increased from 69.9 to 77.3%. The sensitivity and positive predictive value remained unchanged. The K-agreement coefficient increased from 0.364 (fair agreement) to 0.741 (good agreement) and was statistically significant (p = 0.00). Next-generation sequencing was performed in 11 cases, 8 cases with IHC-positive and BRAFwild type in addition to 3 cases that failed PCR analysis and revealed no BRAF V600E. No statistically significant difference was found in the clinicopathological parameters between BRAFV600E and BRAF wild−type melanomas.ConclusionsThese findings suggest that IHC staining homogeneity may be more accurate in predicting BRAFV600E mutational status. However, IHC cannot replace molecular methods.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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