Medical Scientist Training Program and the Department of Medicine, Division of Hematology/Oncology, University of Wisconsin-Madison, School of Medicine and Public Health, Madison, WI.
Department of Medicine, Division of Hematology/Oncology and the Carbone Cancer Center, University of Wisconsin-Madison, School of Medicine and Public Health, Madison, WI.
Clin Breast Cancer. 2017 Jun;17(3):e151-e153. doi: 10.1016/j.clbc.2016.12.009. Epub 2017 Jan 5.
Nager acrofacial dysostosis is a rare craniofacial syndrome characterized by facial anomalies (cleft palate, external ear abnormalities, and micrognathia) and limb defects due to haploinsufficiency of (or SAP49), a protein involved in pre-mRNA splicing. We describe a 31-year-old female patient with Nager syndrome who presented to our institution with synchronous, bilateral breast cancer. She was treated with neoadjuvant hormonal therapy, bilateral mastectomies, and adjuvant chemotherapy with dose-dense doxorubicin, cyclophosphamide, and paclitaxel (ddAC-T). No other germline mutations were identified in a 29-gene panel of known breast cancer-associated genes. To our knowledge, this is the first report of cancer in a patient with Nager syndrome. Somatic inactivating mutations of occur occasionally in breast cancer, and these findings support the idea that is a tumor suppressor. This study illustrates the importance of evaluating the risk of chronic disease in individuals with rare inherited disorders.
Nager 面肩肱型发育不良是一种罕见的颅面综合征，其特征为面部异常（腭裂、外耳畸形和小颌畸形）和肢体缺陷，这是由于（或 SAP49）的单倍不足引起的，该蛋白参与前体 mRNA 剪接。我们描述了一位 31 岁的女性 Nager 综合征患者，她因双侧乳腺癌就诊于我院。她接受了新辅助激素治疗、双侧乳房切除术和密集型多柔比星、环磷酰胺和紫杉醇（ddAC-T）辅助化疗。在已知与乳腺癌相关的 29 个基因的基因面板中未发现其他种系突变。据我们所知，这是 Nager 综合征患者癌症的首例报告。在乳腺癌中偶尔会发生的体细胞失活突变，这些发现支持的观点，即 是一种肿瘤抑制因子。本研究说明了评估患有罕见遗传性疾病的个体患慢性病风险的重要性。
