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Benign and Malignant Brenner Tumors Show an Absence of TERT Promoter Mutations That Are Commonly Present in Urothelial Carcinoma.

良恶性Brenner瘤中没有常见于尿路上皮癌的TERT启动子突变

Khani F,Diolombi ML,Khattar P,Huang W,Fallon JT,Epstein JI,Zhong M

Abstract

Brenner tumors are uncommon ovarian neoplasms, which have morphologic and immunophenotypical features of transitional cell (urothelial) differentiation. The origin of Brenner tumors is perplexing, but they are believed to arise from transitional cell metaplasia occurring within the ovary and/or fallopian tube, although it is controversial whether this metaplasia is truly along transitional cell lines. Recently, TERT promoter mutations have been identified in urothelial carcinoma (UC) with high frequency (approximately 70%), and the current literature suggests a potential diagnostic and/or prognostic role of these mutations in UC. Molecular evidence supporting that Brenner tumors represent neoplasms exhibiting transitional cell differentiation is scant. To explore this further, we investigated a series of 19 Brenner tumors of the ovary (15 benign and 4 malignant) for the presence of TERT promoter mutations after genomic DNA extraction from formalin-fixed paraffin-embedded tissue blocks and standard polymerase chain reaction sequencing. TERT promoter mutations were not identified in any of the cases (0/19). The absence of TERT promoter mutations in Brenner tumors suggests that despite the morphologic and some immunophenotypical resemblance to non-neoplastic and neoplastic transitional epithelium, Brenner tumors may exhibit a molecularly distinct pathogenesis. The findings also may portend diagnostic utility in rare cases wherein it is difficult to distinguish a primary malignant Brenner tumor of the ovary from metastatic UC.

摘要

Brenner瘤是罕见的卵巢肿瘤,具有移行细胞(尿路上皮)分化的形态学和免疫表型特征。Brenner肿瘤的起源复杂,但大多认为起源于卵巢或输卵管上皮发生的移行细胞化生。虽然此观点尚有争议,但是这种化生在细胞转化过程中是真实存在的。

最近,TERT启动子突变已被证实在尿路上皮癌(UC)中出现频率高(约70%),当前文献认为UC中的这些突变具有潜在的诊断和/或预后价值。支持以Brenner瘤为代表的肿瘤具有移行细胞分化的分子学证据很少。

为了进一步探讨这个问题,我们从福尔马林固定石蜡包埋组织块中提取DNA基因组、通过标准的聚合酶链反应的方法研究了19例卵巢的Brenner瘤(15例良性,4例恶性)中TERT启动子突变的情况。所有病例都不存在TERT启动子突变(0 / 19)。

Brenner瘤TERT启动子突变缺失提示:尽管形态学和免疫表型与非肿瘤性和肿瘤性尿路上皮相似,但Brenner瘤在分子水平可能存在不同的发病机制。这些发现提示在难以区分卵巢原发恶性Brenner瘤还是转移性UC的罕见病例中也许有一定诊断价值。

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