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原发性乳腺血管肉瘤:比较转录组分析。

Primary Breast Angiosarcoma: Comparative Transcriptome Analysis.

机构信息

Bioinformatics and Systems Biology Group, Universidad Nacional de Colombia, Bogotá 111221, Colombia.

Servicio de Mastología, Hospital Universitario Mayor Méderi, Bogotá 111411, Colombia.

出版信息

Int J Mol Sci. 2022 Dec 16;23(24):16032. doi: 10.3390/ijms232416032.

Abstract

Primary breast angiosarcoma, with de novo appearance and not associated with exposure to radiation or lymphedema, is a rare pathology representing less than 0.05% of the neoplasms related to this organ. The pathology is characterized by its aggressiveness, poor prognosis, and difficulties in its differential diagnosis. This article reports the case of a 55-year-old white woman with no family history of cancer, with a rapidly growing mass in the left mammary gland that ulcerates and bleeds. It is confirmed as primary breast angiosarcoma by immunostaining in the tumor tissue for CD31, CD34, and FLI-1. In addition, a sample of neoplastic and healthy tissues is collected from the patient for RNA sequencing; the results are contrasted with a tissue sample from a patient with Luminal A subtype of breast cancer, as well as data from other cases of angiosarcoma available in public databases. These findings revealed a genetic profile associated with the immune and inflammatory response in the patient's sample when compared to available angiosarcoma data; these molecular patterns are consistent with other recent studies. Due to the rarity of the disease, the studies carried out on each patient contribute to the expanding knowledge of the etiology and molecular pathways that are still partially known and continue to be the subject of research. Aside from a comparative transcriptome study, this article aims to provide an update on the state of knowledge about this disease.

摘要

原发性乳腺血管肉瘤,初发且与放射治疗或淋巴水肿无关,是一种罕见的病理学表现,其发病率低于与该器官相关的肿瘤的 0.05%。该病理学表现为侵袭性强、预后差以及鉴别诊断困难。本文报道了一例 55 岁白人女性病例,无癌症家族史,左乳腺有一迅速生长的肿块,溃疡并出血。免疫组织化学染色在肿瘤组织中标记 CD31、CD34 和 FLI-1,证实为原发性乳腺血管肉瘤。此外,从患者身上采集了肿瘤和健康组织的样本进行 RNA 测序;将结果与一名患有 Luminal A 型乳腺癌的患者的组织样本以及其他公共数据库中可用的血管肉瘤数据进行对比。与可用的血管肉瘤数据相比,这些发现揭示了患者样本中与免疫和炎症反应相关的遗传特征;这些分子模式与其他最近的研究一致。由于疾病罕见,对每位患者进行的研究有助于扩大对病因和分子途径的认识,这些途径仍部分未知,并且仍然是研究的主题。除了进行比较转录组研究外,本文还旨在提供对该疾病的最新知识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b71/9781631/8484f6f447a8/ijms-23-16032-g001.jpg

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