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女性成人伴肝脏转移的分泌型乳腺癌:病例报告及文献复习。

Secretory breast carcinoma in a female adult with liver metastsis: a case report and literature review.

机构信息

Institute of Forensic Medicine, Shanxi Medical University, Yingze District, Shanxi Province, Taiyuan, People's Republic of China.

Department of Pathology, Shanxi Provincial Cancer Hospital, Xinghua ling District, Shanxi Province, Taiyuan, People's Republic of China.

出版信息

Diagn Pathol. 2021 Oct 10;16(1):89. doi: 10.1186/s13000-021-01156-6.

Abstract

BACKGROUND

Secretory breast carcinoma is an uncommon subset of breast cancer that usually has a favorable outcome. Although initially described in children, it also occurs in adults where it may metastasize, possibly resulting in death. To date, only 20 cases of secretory breast carcinoma with distant metastases have been described.

CASE PRESENTATION

A 42-year-old female presented with liver metastasis after modified radical mastectomy of the left breast in 2008 at 34 years of age. The liver metastasis was morphologically similar to the primary tumor. Pan-TRK and Fluorescence in situ hybridization showed a rearrangement in the ETV6 gene. She subsequently underwent adjuvant chemotherapy with a fatal outcome.

CONCLUSIONS

Although secretory breast carcinoma is usually associated with favorable outcomes, our study and reviews provide a novel insight into the genetic spectrum and treatment of secretory breast carcinoma showing reduced expression of hormone receptors, abnormal genomic profiles, and possible poor prognosis. Targeted therapy may curb clinically aggressive cases. Additional molecular investigations are needed to determine the links between specific mutations and poor prognosis.

摘要

背景

分泌性乳腺癌是一种罕见的乳腺癌亚型,通常预后良好。虽然最初在儿童中描述,但也发生在成人中,可能会转移,导致死亡。迄今为止,仅有 20 例远处转移的分泌性乳腺癌病例被描述。

病例介绍

一名 42 岁女性,34 岁时因左乳腺癌改良根治术出现肝转移。肝转移与原发性肿瘤形态相似。泛 TRK 和荧光原位杂交显示 ETV6 基因重排。随后她接受了辅助化疗,但最终死亡。

结论

虽然分泌性乳腺癌通常与良好的预后相关,但我们的研究和综述为分泌性乳腺癌的遗传谱和治疗提供了新的见解,显示出激素受体表达降低、异常基因组图谱和可能的不良预后。靶向治疗可能会抑制具有临床侵袭性的病例。需要进一步的分子研究来确定特定突变与不良预后之间的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/987d/8502339/974bb398fd3a/13000_2021_1156_Fig1_HTML.jpg

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