Bodnar Magdalena, Burduk Paweł, Antosik Paulina, Jarmuz-Szymczak Małgorzata, Wierzbicka Malgorzata, Marszalek Andrzej
Department of Clinical Pathomorphology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Bydgoszcz, Poland.
Department of Otolaryngology and Laryngeal Oncology, K. Marcinkowski University of Medical Sciences, Poznan, Poland.
J Oral Pathol Med. 2017 May;46(5):340-345. doi: 10.1111/jop.12504. Epub 2016 Oct 15.
The role of BRAF mutations in cancerogenesis has been demonstrated in several solid tumor types. However, in salivary gland tumors, this genetic alteration is very uncommon, and its role still remains unclear. Thus, the aim of this study was to analyze BRAF V600E (VE1) protein expression with BRAF mutation status in codon 600, in malignant and benign salivary gland tumors.
Studies were performed on archived formalin-fixed paraffin-embedded tissue sections derived from 95 patients who underwent surgery for tumors of the salivary gland. Immunohistochemical staining (IHC) on tissue microarray slides was performed for evaluation of BRAF V600E (VE1) protein expression, and the automatic molecular diagnostics platform was used for the evaluation of mutations in codon 600 of BRAF gene.
IHC cytoplasmic expression of BRAF V600E (VE1) protein was found in two of 95 cases: one case of adenocarcinoma NOS (one of three; 33%) and one case of carcinoma ex pleomorphic adenoma (one of five; 20%). Although, in IHC studies, nuclear BRAF V600E (VE1) protein expression was found in 14 (15%) of the analyzed cases: nine of 28 (32%) cases of pleomorphic adenoma, three of five (60%) cases of ductal carcinoma, one of nine (11%) case of mucoepidermoid carcinoma, and in one of five (20%) case of carcinoma ex pleomorphic adenoma. All cases were negative for polymerase chain reaction PCR-based analyses of BRAF mutations in codon 600.
In studied salivary gland cancers, no PCR-based prove mutations of BRAF V600 were detected. Further molecular analyses are necessary to rapid molecular arrays for the identification of specific mutations, optimal for individualized targeted therapies.
BRAF突变在多种实体瘤类型的肿瘤发生过程中的作用已得到证实。然而，在涎腺肿瘤中，这种基因改变非常罕见，其作用仍不明确。因此，本研究的目的是分析BRAF V600E（VE1）蛋白表达与600密码子处BRAF突变状态在恶性和良性涎腺肿瘤中的情况。
对95例接受涎腺肿瘤手术患者的存档福尔马林固定石蜡包埋组织切片进行研究。对组织微阵列玻片进行免疫组织化学染色（IHC）以评估BRAF V600E（VE1）蛋白表达，并使用自动分子诊断平台评估BRAF基因600密码子处的突变。
在95例病例中有2例发现BRAF V600E（VE1）蛋白的IHC细胞质表达：1例非特殊类型腺癌（3例中的第1例；33%）和1例多形性腺瘤癌变（5例中的第1例；20%）。尽管在IHC研究中，14例（15%）分析病例中发现了BRAF V600E（VE1）蛋白的核表达：28例多形性腺瘤中有9例（32%），5例导管癌中有3例（60%），9例黏液表皮样癌中有1例（11%），5例多形性腺瘤癌变中有1例（20%）。所有病例基于聚合酶链反应（PCR）的BRAF 600密码子突变分析均为阴性。
在所研究的涎腺癌中，未检测到基于PCR的BRAF V600的证实性突变。需要进一步进行分子分析以快速进行分子阵列分析来鉴定特定突变，这对于个体化靶向治疗是最佳的。
