Yadala Vivek, Jafri Hassaan, Legenza Mary T, Tirona Maria
Internal Medicine, Joan C Edwards School of Medicine at Marshall University, Huntington, West Virginia, USA
Hematology/Oncology, Joan C Edwards School of Medicine at Marshall University, Huntington, West Virginia, USA.
BMJ Case Rep. 2020 Feb 4;13(2):e232226. doi: 10.1136/bcr-2019-232226.
This is a case of 49-year-old white woman who presented with a rapidly growing right sided breast mass. A subsequent punch biopsy confirmed grade 3 invasive mammary carcinoma of no special type which was negative for oestrogen receptor, progesterone receptor and Her-2 neu overexpression. She was a carrier of folliculin gene mutation that is characteristic of Birt-Hogg-Dubé syndrome (BHDS), a condition known to cause skin lesions, renal cancers and pneumothoraces. Family history revealed patient's mother, grandmother and maternal aunt developed renal cell carcinomas during their lifetime and were positive for the same germ line mutation. Tumour tissue was positive for TP53 mutation and negative for BRCA1, BRCA2 and other genes commonly associated with breast cancer. We report a patient with BHDS presenting with breast cancer that showed dramatic response to neoadjuvant chemotherapy prior to bilateral mastectomy, local chest wall radiation and 6 months of adjuvant capecitabine.
这是一例49岁白人女性患者，其右侧乳腺肿物迅速增大。随后的穿刺活检证实为3级非特殊类型浸润性乳腺癌，雌激素受体、孕激素受体及Her-2 neu过表达均为阴性。她是卵泡素基因突变携带者，该突变是Birt-Hogg-Dubé综合征（BHDS）的特征，BHDS是一种已知可导致皮肤病变、肾癌和气胸的疾病。家族史显示患者的母亲、祖母和外祖母一生中均患肾细胞癌，且该种系突变检测均为阳性。肿瘤组织TP53突变检测为阳性，BRCA1、BRCA2及其他常见乳腺癌相关基因检测为阴性。我们报告了1例患有BHDS且患乳腺癌的患者，该患者在双侧乳房切除、局部胸壁放疗及6个月辅助性卡培他滨治疗前对新辅助化疗表现出显著反应。
