PDF(Pubmed)
Abstract：
BACKGROUND: Adenoid ameloblastoma (AdAM) is a frequently recurrent tumor that shows hybrid histological features of both ameloblastoma and adenomatoid odontogenic tumor (AOT). AdAM is expected to be classified as a new subtype of ameloblastoma in the next revision of the World Health Organization (WHO) odontogenic tumor classification. However, whether AdAM is a histologic variant of ameloblastoma or AOT remains unclear. To establish a new category, genetic evidence indicating the tumor category is necessary.
METHODS: We present a case of a 23-year-old Japanese woman with AdAM who underwent genetic/DNA analysis for ameloblastoma-related mutation using immunohistochemical staining, Sanger sequencing, and next-generation sequencing (NGS) analyses with reliable clinicopathological evidence.
RESULTS: Immunohistochemical expression of BRAF p.V600E was diffusely positive for both ameloblastoma- and AOT-like components. Sanger sequencing and NGS analyses showed missense mutations in BRAF p.V600E (c.1799T > A), a gene that is commonly altered in ameloblastomas but not in KRAS, another gene associated with AOT.
CONCLUSIONS: This case report is the first to provide genetic evidence on the ameloblastomatous origin of AdAM with a BRAF p.V600E mutation. A larger series of AdAM groups\' molecular testing is needed to aptly classify them and prognosticate the best treatment.
METHODS: We present a case of a 23-year-old Japanese woman with AdAM who underwent genetic/DNA analysis for ameloblastoma-related mutation using immunohistochemical staining, Sanger sequencing, and next-generation sequencing (NGS) analyses with reliable clinicopathological evidence.
RESULTS: Immunohistochemical expression of BRAF p.V600E was diffusely positive for both ameloblastoma- and AOT-like components. Sanger sequencing and NGS analyses showed missense mutations in BRAF p.V600E (c.1799T > A), a gene that is commonly altered in ameloblastomas but not in KRAS, another gene associated with AOT.
CONCLUSIONS: This case report is the first to provide genetic evidence on the ameloblastomatous origin of AdAM with a BRAF p.V600E mutation. A larger series of AdAM groups\' molecular testing is needed to aptly classify them and prognosticate the best treatment.
摘要：
背景：腺样性成釉细胞瘤（AdAM）是一种经常复发的肿瘤，具有成釉细胞瘤和腺瘤样牙源性肿瘤（AOT）的混合组织学特征。在世界卫生组织（WHO）牙源性肿瘤分类的下一次修订中，AdAM有望被归类为成釉细胞瘤的新亚型。然而,AdAM是否是成釉细胞瘤或AOT的组织学变异尚不清楚.为了建立一个新的类别，表明肿瘤类别的遗传证据是必要的。
方法：我们介绍了一例23岁的日本女性AdAM患者，使用免疫组织化学染色对成釉细胞瘤相关突变进行了遗传/DNA分析，桑格测序,和下一代测序（NGS）分析具有可靠的临床病理证据。
结果：BRAFp.V600E的免疫组织化学表达对成釉细胞瘤和AOT样成分均呈弥漫性阳性。Sanger测序和NGS分析显示BRAFp.V600E中存在错义突变（c.1799T>A），一种在成釉细胞瘤中通常改变但在KRAS中没有改变的基因，另一个与AOT相关的基因。
结论：该病例报告首次提供了具有BRAFp.V600E突变的AdAM成釉细胞瘤起源的遗传学证据。需要进行更多的AdAM组分子检测，以恰当地对它们进行分类并预测最佳治疗方案。
方法：我们介绍了一例23岁的日本女性AdAM患者，使用免疫组织化学染色对成釉细胞瘤相关突变进行了遗传/DNA分析，桑格测序,和下一代测序（NGS）分析具有可靠的临床病理证据。
结果：BRAFp.V600E的免疫组织化学表达对成釉细胞瘤和AOT样成分均呈弥漫性阳性。Sanger测序和NGS分析显示BRAFp.V600E中存在错义突变（c.1799T>A），一种在成釉细胞瘤中通常改变但在KRAS中没有改变的基因，另一个与AOT相关的基因。
结论：该病例报告首次提供了具有BRAFp.V600E突变的AdAM成釉细胞瘤起源的遗传学证据。需要进行更多的AdAM组分子检测，以恰当地对它们进行分类并预测最佳治疗方案。
