Zhou Shaoqiang, Wang Jiankui, Li Ming, Yang Yinju, Zhang Hushan, Chen Dedian
Department of Breast Surgery, The Third Affiliated Hospital of Kunming Medical University Kunming 650032, Yunnan, P. R. China.
The Medical Department, 3D Medicines Inc. Shanghai 201114, P. R. China.
Int J Clin Exp Pathol. 2023 Nov 15;16(11):352-356. eCollection 2023.
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.
由于同步双侧男性乳腺癌(BC)极为罕见,其基因突特征的报道较少。在此,我们报告一名55岁男性患者,他被诊断为双侧乳腺癌(BBC)且携带不同基因突变。通过超声、磁共振成像(MRI)、乳腺X线摄影和粗针活检确诊为同步双侧乳腺癌(SBBC)。随后,进行了双侧改良根治性乳房切除术,组织病理学检查显示为浸润性导管癌。为进一步研究该患者的基因图谱,对双侧乳房的活检组织和一份血液样本进行了靶向二代测序(NGS)。左乳(LB)样本的基因组图谱显示有两个拷贝数变异(CNV),即MCL1和DAXX的扩增,而右乳(RB)样本未显示明显突变。我们报告该病例及其临床病理结果和基因研究情况,因为SBBS极为罕见,尤其是在男性中。该病例中观察到的基因突变异质性可能提示不同的发病机制以及对不同治疗策略的需求。