乳腺和唾液腺的腺泡细胞癌是不同的疾病吗?

Are acinic cell carcinomas of the breast and salivary glands distinct diseases?

作者信息

Piscuoglio Salvatore, Hodi Zsolt, Katabi Nora, Guerini-Rocco Elena, Macedo Gabriel S, Ng Charlotte K Y, Edelweiss Marcia, De Mattos-Arruda Leticia, Wen Hannah Y, Rakha Emad A, Ellis Ian O, Rubin Brian P, Weigelt Britta, Reis-Filho Jorge S

机构信息

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Department of Pathology, University of Nottingham, Nottingham, UK.

出版信息

Histopathology. 2015 Oct;67(4):529-37. doi: 10.1111/his.12673. Epub 2015 Mar 23.

Abstract

AIMS

Acinic cell carcinomas (AcCC) of the breast have been reported to constitute the breast counterpart of salivary gland AcCCs, based on the similarities of their histological and immunohistochemical features. Breast AcCC is a vanishingly rare form of triple-negative breast cancer (TNBC). Recent studies have demonstrated that in TNBCs, the two driver genes most frequently mutated are TP53 (82%) and PIK3CA (10%). We sought to define whether breast AcCCs would harbour TP53 and PIK3CA somatic mutations, and if so, whether these would be present in salivary gland AcCCs.

METHODS AND RESULTS

Sanger sequencing of the entire coding region of TP53 and of PIK3CA hotspot mutation sites of 10 breast and 20 salivary gland microdissected AcCCs revealed eight TP53 (80%) and one PIK3CA (10%) somatic mutations in breast AcCCs. No somatic mutations affecting these genes were found in the 20 salivary gland AcCCs analysed.

CONCLUSIONS

Our findings demonstrate that breast AcCCs display TP53 and PIK3CA mutations at frequencies similar to those of common types of TNBCs, whereas these genes appear not to be altered in salivary gland AcCCs, suggesting that despite their similar histological appearances, AcCCs of the breast and salivary glands probably constitute unrelated diseases.

摘要

目的

基于组织学和免疫组化特征的相似性,乳腺腺泡细胞癌(AcCC)被认为是涎腺AcCC的乳腺对应物。乳腺AcCC是三阴性乳腺癌(TNBC)中极为罕见的一种形式。最近的研究表明,在TNBC中,最常发生突变的两个驱动基因是TP53(82%)和PIK3CA(10%)。我们试图确定乳腺AcCC是否会携带TP53和PIK3CA体细胞突变,如果是,涎腺AcCC中是否也会出现这些突变。

方法与结果

对10例乳腺和20例涎腺经显微切割的AcCC的TP53编码区全长及PIK3CA热点突变位点进行桑格测序,结果显示乳腺AcCC中有8例(80%)存在TP53体细胞突变,1例(10%)存在PIK3CA体细胞突变。在分析的20例涎腺AcCC中未发现影响这些基因的体细胞突变。

结论

我们的研究结果表明,乳腺AcCC中TP53和PIK3CA突变的频率与常见类型的TNBC相似,而这些基因在涎腺AcCC中似乎未发生改变,这表明尽管乳腺和涎腺AcCC的组织学表现相似,但它们可能是不相关的疾病。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索