双侧及同步男性乳腺癌1例。

IF 1.1 Q4 ONCOLOGY
International journal of clinical and experimental pathology Pub Date : 2023-11-15 eCollection Date: 2023-01-01
Shaoqiang Zhou, Jiankui Wang, Ming Li, Yinju Yang, Hushan Zhang, Dedian Chen
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引用次数: 0

摘要

同步双侧男性乳腺癌(BC)的基因突变特征由于其罕见,报道很少。在此,我们报告了一位55岁男性患者,他被诊断为双侧乳腺癌(BBC),并携带不同的基因突变。同时性双侧乳腺癌(SBBC)的诊断采用超声、磁共振成像(MRI)、乳房x线摄影和穿刺活检。随后行双侧改良根治性乳房切除术,组织病理学检查显示浸润性导管癌。为了进一步研究患者的遗传谱,对双乳活检组织和血液样本进行了靶向下一代测序(NGS)。左乳(LB)样本的基因组图谱显示两个拷贝数变异(CNVs), MCL1和DAXX扩增,而右乳(RB)样本无明显突变。由于SBBS极为罕见,尤其是在男性中,我们将报告该病例及其临床病理结果和遗传学调查。在这种情况下观察到的基因突变的异质性可能表明不同的发病机制和需要不同的治疗策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Bilateral and synchronous male breast cancer: a case report.

Genetic mutational characterization of synchronous bilateral male breast cancer (BC) has been poorly reported due to its rarity. Herein, we present a 55-year-old male patient who was diagnosed with bilateral breast cancer (BBC) and harbored different gene mutations. The diagnosis of synchronous bilateral breast cancer (SBBC) was made using ultrasonography, magnetic resonance imaging (MRI), mammography and core-needle biopsy. Subsequently, bilateral modified radical mastectomies were performed, and histopathologic examination revealed invasive ductal carcinoma. To further investigate the genetic profile of the patient, the biopsy tissue from both breasts and a blood sample were subjected to targeted next generation sequencing (NGS). The genomic profile of the left breast (LB) sample revealed two copy number variations (CNVs), amplification of MCL1 and DAXX, while the right breast (RB) sample showed no obvious mutation. We are reporting this case along with its clinicopathologic findings and genetic investigations, since SBBS occurs extremely rarely, especially in men. The heterogeneity in gene mutations observed in this case may suggest a different pathogenesis and the need for different therapy strategies.

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来源期刊
自引率
0.00%
发文量
42
审稿时长
1 months
期刊介绍: The International Journal of Clinical and Experimental Pathology (IJCEP, ISSN 1936-2625) is a peer reviewed, open access online journal. It was founded in 2008 by an international group of academic pathologists and scientists who are devoted to the scientific exploration of human disease and the rapid dissemination of original data. Unlike most other open access online journals, IJCEP will keep all the traditional features of paper print that we are all familiar with, such as continuous volume and issue numbers, as well as continuous page numbers to keep our warm feelings towards an academic journal. Unlike most other open access online journals, IJCEP will keep all the traditional features of paper print that we are all familiar with, such as continuous volume and issue numbers, as well as continuous page numbers to keep our warm feelings towards an academic journal.
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