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乳腺低级别腺鳞癌——一例伴有 BRCA1 种系突变的病例报告。

Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation.

机构信息

Department of Senology and Gynecopathology, Erasmus University Hospital, Free University of Brussels (ULB), Route de Lennik 808 CP610 B. 1070 Brussels, Belgium.

出版信息

Pathol Res Pract. 2010 Jul 15;206(7):511-3. doi: 10.1016/j.prp.2010.01.008. Epub 2010 Mar 1.

Abstract

Breast cancers occurring in women with germline BRCA1 mutations tend to fall into the category of triple-negative or basal-like phenotypes, such as metaplastic carcinoma. Low-grade adenosquamous carcinoma of the breast is a rare variant of metaplastic carcinoma. We present the case of a 49-year-old woman with a past medical history of invasive ductal breast carcinoma 13 years ago, and who was recently diagnosed as having a low-grade adenosquamous carcinoma in the same breast. Genetic analysis of blood DNA revealed a BRCA1 mutation. To our knowledge, BRCA1 mutation in association with a low-grade adenosquamous carcinoma of the breast has not yet been reported. Thus, it may be important to consider the possibility of an association, but supplemental studies are needed.

摘要

BRCA1 种系突变的女性中发生的乳腺癌往往属于三阴性或基底样表型,如化生性癌。乳腺低级别腺鳞癌是化生性癌的一种罕见变体。我们报告了一例 49 岁女性,其 13 年前患有浸润性导管乳腺癌,最近在同一乳房中被诊断为患有低级别腺鳞癌。血液 DNA 的基因分析显示 BRCA1 突变。据我们所知,BRCA1 突变与乳腺低级别腺鳞癌相关的情况尚未见报道。因此,有必要考虑两者之间的关联,但还需要进一步的研究。

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