NYU Medical Grand Rounds Clinical Vignette

1. NYU Medical Grand Rounds Clinical Vignette Todd Cutler, MD PGY3, Class of 2012 January 24, 2012 UNITED STATES DEPARTMENT OF VETERANS AFFAIRS

2. Chief Complaint UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Our patient is a 39 year-old woman who presents with a mass in her left breast.

3. History of Present Illness UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • The patient’s mother was diagnosed with breast cancer at age 32 and died of disease at age 43. • Her maternal grandmother was diagnosed with breast cancer at age 50 and her maternal great-grandmother had breast cancer at an unknown age. • Given the patient’s family history she began yearly mammogram surveillance at age 34.

4. History of Present Illness UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • A mammogram and breast sonogram performed at age 38 showed no evidence of disease. • Months afterwards, she palpated a mass in her left breast which prompted her to see her doctor.

5. History of Present Illness UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • The patient had a mammogram which showed the mass to be a well-circumscribed 7mm lesion.

6. Additional History UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Past Medical History: • Fibroids • Depression • Past Surgical History: • Tonsillectomy at age 19 • Social History: • No tobacco use and occasional alcohol use • Works as legal assistant • Family History: • As reported • Ashkenazi Jewish family • Allergies: • No known drug allergies • Medications: • Provigil 200mg once daily

7. Physical Examination UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • General: Well-appearing, no distress • Vital Signs: T:98.3 BP:128/89 HR:84 RR:16 and O2 sat:99% • Palpable, firm and discrete left breast mass in 10 o’clock region, no skin changes • Remainder of physical exam was normal

8. Laboratory Findings UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Complete blood count was within normal limits • Basic metabolic panel was within normal limits • Hepatic panel was within normal limits • CEA, CA 27.29 and CA 125 were within normal limits

9. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Differential Diagnosis • Benign breast disease (e.g. fibroadenoma, cyst) versus breast cancer

10. Clinical Course UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • An ultrasound-guided biopsy was performed and, on pathology, the lesion was found to be invasive ductal carcinoma of the breast. • She had a lumpectomy and sentinel node biopsy which showed a T1bN0Mx stage 1 invasive ductal carcinoma.

11. Clinical Course UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Biomarker stainings were negative for estrogen, progesterone and HER-2/neu receptors and Ki-67 was 70 to 80%.

12. Clinical Course UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • She was referred for genetic testing was found to be have the BRCA1 mutation 187delAG. • She was informed that she was at increased risk of recurrent and contralateral breast cancer as well as ovarian cancer. • She declined prophylactic bilateral mastectomy as well as oophorectomy.

13. Clinical Course UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • She received six months of chemotherapy with four cycles of adriamycin and cytoxan followed by taxol plus carboplatin. • Afterwards she received local adjuvant radiation therapy.

14. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Clinical Course • For five years following her initial diagnosis and treatment she has had regular diagnostic imaging by MRI and mammograms as well as regular transvaginal ultrasounds. • Despite extensive counseling, she does not wish to have risk reducing surgery. • Today she remains free of recurrence.

15. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Final Diagnosis • Invasive ductal carcinoma of the breast – in remission.