Ameloblastoma: The association of BRAF V600E expression with clinicopathological characteristics and treatment outcomes in a case series

IF 2.1 2区 医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE
S. Crimi , S. Battaglia , R. Giudice , V. Ronsivalle , M. Cicciù , A. Bianchi
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引用次数: 0

Abstract

Objectives

Ameloblastoma is a benign tumor with clinical significance due to its high incidence as well as high recurrence rate after surgical enucleation. Notably BRAF V600E pathogenic mutations have been reported in high rate of ameloblastoma. The aim of this study was investigating the association of BRAF V600E expression with clinicopathological characteristics, treatment outcomes and recurrence rates.

Material and methods

We have analyzed 10 patients with ameloblastoma followed by a three-year evaluation, to understand the pathogenesis and molecular mechanism underlying the tumorigenic. All samples were tested for genomic DNA to identify Esone 15 mutations (codon 600) by PCR and perkiness on rotorgene Q and Pyromark Q24, by the Pathological Anatomy Department.

Results

Positive BRAF V600E mutation was detected in 4 of the 10 ameloblastoma cases. Three of the patients with BRAF V600E mutation had a recurrence within 3 years from the first surgery. The fourth patient with mutation showed no signs of relapse during followup. In only one BRAF- patient we showed recurrence of disease, 14 years after the last surgery. Another significant finding from the study is the correlation between the presence of the mutation and the initial size of the lesion.

Conclusions

Ameloblastoma with BRAF V600E mutation has been observed with a higher recurrence rate and an increased initial volume of the lesion. The results obtained demonstrate an increased aggressiveness and invasiveness of BRAF + ameloblastomas.
成釉细胞瘤:BRAF V600E表达与临床病理特征和治疗结果的关系
目的:成釉细胞瘤是一种发病率高、术后复发率高的良性肿瘤,具有重要的临床意义。值得注意的是,BRAF V600E致病性突变在成釉细胞瘤中发病率很高。本研究的目的是探讨BRAF V600E表达与临床病理特征、治疗结果和复发率的关系。材料和方法:我们分析了10例成釉细胞瘤患者,并对其进行了为期三年的评估,以了解成釉细胞瘤的发病机制和分子机制。所有样本进行基因组DNA检测,通过PCR鉴定Esone 15突变(密码子600),并由病理解剖科鉴定rotorgene Q和Pyromark Q24的多态性。结果:10例成釉细胞瘤中4例检测到BRAF V600E阳性突变。3例BRAF V600E突变患者在第一次手术后3年内复发。第4例突变患者在随访期间未出现复发迹象。只有一名BRAF患者在最后一次手术后14年出现复发。该研究的另一个重要发现是突变的存在与病变的初始大小之间的相关性。结论:BRAF V600E突变成釉细胞瘤复发率较高,病变初始体积增大。结果显示BRAF +成釉细胞瘤的侵袭性和侵袭性增加。
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来源期刊
CiteScore
5.20
自引率
22.60%
发文量
117
审稿时长
70 days
期刊介绍: The Journal of Cranio-Maxillofacial Surgery publishes articles covering all aspects of surgery of the head, face and jaw. Specific topics covered recently have included: • Distraction osteogenesis • Synthetic bone substitutes • Fibroblast growth factors • Fetal wound healing • Skull base surgery • Computer-assisted surgery • Vascularized bone grafts
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