一名患有维尔纳综合征的西班牙裔患者的乳腺癌。

Pub Date : 2023-10-31 eCollection Date: 2023-10-01 DOI:10.3941/jrcr.v17i8.5168

Manuel Menendez Santos, Carlos Gonzalez Baerga, Sanjay Lamsal, Corey Engel, Savas Ozdemir

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引用次数: 0

摘要

维尔纳综合征（Werner Syndrome）是一种罕见的常染色体隐性遗传病，由于与 DNA 稳定性相关的基因突变而导致早衰和恶性肿瘤风险增加。我们首次报告了一名患有 WS 的 29 岁西班牙裔女性乳腺癌患者的病例。诊断性乳房 X 线照相术和超声波检查、乳腺 MRI 和 PET 检查发现两个病灶，活检证实为浸润性导管癌。患者接受了新辅助化疗和根治性乳房切除术。术后10个月复发，分子分析显示为TP53突变。本病例研究中对乳腺癌的多因素评估对于优化 WS 患者的筛查、诊断和管理至关重要。

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Breast cancer in a Hispanic patient with Werner syndrome.

Werner Syndrome is a rare autosomal recessive condition characterized by premature aging and increased risk of malignancies due to gene mutations associated with DNA stability. We present the first case report of a 29-year-old Hispanic female with WS diagnosed with breast cancer. Diagnostic mammography and ultrasound, breast MRI and PET examinations revealed two lesions biopsy proven as invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy and radical mastectomy. Recurrence occurred 10 months postoperatively with molecular analysis demonstrating TP53 mutations. The multifactorial assessment of breast cancer in this case study is crucial towards optimizing screening, diagnosis and management of this disease in patients with WS.

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