PT  - JOURNAL ARTICLE
AU  - Vivek Yadala
AU  - Hassaan Jafri
AU  - Mary T Legenza
AU  - Maria Tirona
TI  - Breast cancer in a patient with Birt-Hogg-Dubé syndrome (BHDS) with dramatic response to neoadjuvant chemotherapy
AID  - 10.1136/bcr-2019-232226
DP  - 2020 Feb 01
TA  - BMJ Case Reports
PG  - e232226
VI  - 13
IP  - 2
4099  - http://casereports.bmj.com/content/13/2/e232226.short
4100  - http://casereports.bmj.com/content/13/2/e232226.full
SO  - BMJ Case Reports2020 Feb 01; 13
AB  - 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.