Screening and Genetics
A 37yoF presents to your clinic to discuss breast cancer screening. She has a history of Hodgkin lymphoma which was treated with chemotherapy and radiation 10 years ago. Her vitals and physical exam are wnl. She doesn't take any medications. She wants to do everything possible to minimize her risk of developing breast cancer.
What do you recommend?
Annual mammogram and breast MRI
A 45yo premenopausal female was diagnosed with ER+PR+HER2- invasive ductal carcinoma on core biopsy after presenting with a self-palpated breast mass. She underwent mastectomy with pathology showing a 4.2cm mass, ER+PR+HER2-, Ki67 65%. 21 gene assay was high risk. She is planned for adjuvant chemotherapy + CDK inhibitor.
What do you recommend regarding her endocrine therapy?
AI+OFS
A breast cancer biopsy shows HER2 IHC 2+. FISH demonstrates a HER2/CEP17 ratio of 2.3 with an average HER2 copy number of 5.8 per cell.
Explain how the tumor HER2 status be reported.
HER2+
A 67-year-old woman is diagnosed with triple-negative invasive ductal carcinoma of the breast, measuring 2.1 cm, with no lymph node involvement. She has no known family history of breast or ovarian cancer and is otherwise healthy.
What is the most appropriate next step regarding genetic evaluation?
Referral for germline genetic testing regardless of age or family history
A 70yoF with h/o osteopenia is diagnosed with T2N0, HR+HER2- breast cancer. Oncotype is low risk. She undergoes lumpectomy with RT and is started on AI.
What supportive care measure should be taken to preserve bone density and improve survival?
Zometa 6 months for 3 years
A 54yoF presents to oncology with a new breast cancer diagnosis. Biopsy of a 12cm mass reveals Grade 2 infitrative ductal carcinoma that is ER/PR+, HER2-. Clinical stage T1N0M0. FHx is notable for sister with pancreatic cancer and father with prostate cancer dx at 57yo.
Which germline mutation is most likely associated with this patient's disease?
BRCA 2
A 62yo female presents to the oncology clinic to discuss adjuvant systemic therapy recommendations after partial mastectomy and sentinel LN biopsy. Final pathology reveals a 1.8 cm invasive ductal carcinoma with negative margins and negative lymph nodes. Tumor testing reveals ER+ (99%), PR- (0%), HER2- (1+ by IHC), grade 2 disease with Ki67 of 30%. She plans to received whole breast radiation.
What is the most appropriate next step?
A 55-year-old postmenopausal woman is diagnosed with invasive ductal carcinoma of the Right breast measuring 1.4 cm, node-negative, HR-, HER2+. She has no significant comorbidities.
Which adjuvant systemic therapy regimen is most appropriate?
Adjuvant Paclitaxel 80 mg/m² weekly × 12 weeks with concurrent trastuzumab, followed by trastuzumab to complete 1 year
A 48yoF presents to your office to discuss neoadjuvant treatment for her newly diagnosed TNBC measuring 1.5 cm (T1c) with no axillary lymph node involvement (N0).
What do you recommend regarding her treatment?
KEYNOTE 522 did not include T1c disease
A 42yoF is referred to you from her breast surgeon after initial screening mammogram was interpreted as BI-RADS category 4B with breast density. Needle biopsy noted atypical lobular hyperplasia. Excisional biopsy revealed normal breast tissue. She is interested in options to reduce her future risk of developing breast cancer.
What should you recommend?
Tamoxifen for 5 years
A 62yo man presents with 6 month h/o L breast lump that has slowly enlarged overtime. Diagnostic breast imaging shows a suspicious 4cm breast mass. Biopsy confirms Grade 2 invasive ductal carcinoma, ER+, PR+, HER2-. His FHx is positive for mother with breast cancer and sister with ovarian cancer.
Which germline mutation is most likely associated with this patient's disease?
BRCA 2
A 53yo post-menopausal woman presents after surgery with T2N2M0, ER+ (100%), PR+ (90%), HER2- (0 by IHC), grade 3 breast cancer. Genetic testing reveals a deleterious BRCA mutation. She has completed adjuvant doxorubicin and cyclophosphamide, followed by paclitaxel (AC-T) as well as radiation therapy.
What treatment do you recommend based on her genetic testing?
Olaparib + Anastrazole
A 35yoF presents to the oncology clinic with a 6 cm ER+, HER2+ invasive ductal carcinoma. She received neoadjuvant docetaxel, carboplatin, transtuzumab, pertuzumab with excellent clinical response, followed by lumpectomy and sentinel LN biopsy. Pathologic findings show a residual 6 mm invasive tumor in the breast and none of the 2 LN sampled were involved. She underwent oophorectomy and was started on radiation therapy and an adjuvant AI.
What treatment should you recommend now?
Trastuzumab emtansine (T-DM1)
37yoF with no FHx of BC presents with a new palpable Left breast mass. Imaging demonstrates a 6 cm mass and suspicious axillary adenopathy. Biopsy indicates high-grade invasive ductal carcinoma that is ER-, PR-, HER2-. Axillary node biopsy confirms metastatic involvement. Staging PET shows no evidence of distant disease.
What is the most appropriate next step?
carboplatin+taxane+pembro then anthracycline+cytoxan+pembro then pembro for a total of 1yr
A 35yo female at 22 weeks gestation is diagnosed with T3N1M0 IDC, ER+, PR+, HER2-.
What is the most appropriate next step for workup in this patient?
Chest radiograph with abdominal shielding and liver US
A 42-year-old woman is diagnosed with invasive lobular carcinoma of the breast. Her family history is notable for mother who was diagnosed at age 45 with diffuse-type gastric carcinoma. Genetic counseling is recommended due to concern for a hereditary cancer syndrome.
Which germline mutations is most likely responsible for this patient’s presentation?
CDH1
A 63yo postmenopausal woman presents to your office to discuss systemic therapy. Lumpectomy and axillary LN dissection shows a 6.2 cm invasive carcinoma with negative margins, Grade 2, ER+, PR+, HER-, with negative LN. You recommend adjuvant chemotherapy followed by radiation. In addition, you recommend treatment with ribociclib + AI.
What addition test should you obtain now and monitor during treatment?
EKG
A 52-year-old woman is diagnosed with HER2-positive, HR–negative invasive ductal carcinoma of the breast measuring 2.5 cm. There is no lymph node involvement.
Should you recommend upfront surgery or neoadjuvant chemotherapy and why?
TCH
Only T1N0 disease can go straight to surgery
A 56yo post-menopausal woman noted a lump on her Left breast. Mammogram revealed a 1.8 cm hypoechoic mass with no suspicious lymph nodes in the axilla. Core biopsy showed grade 3 IDC that is HR-, HER2-. She received carboplatin/paclitaxel + pembro followed by doxorubicin/cyclophosphamide + pembro. Pathology from lumpectomy and SLNB demonstrated residual tumor measuring 0.8 mm and no malignant cells in the axillary nodes.
What treatment do you recommend next?
capecitabine
A 48yo premenopausal female presents with a 3-week history of L breast erythema and edema. She was treated for cellulitis with no response to antibiotics. A skin punch biopsy was performed and showed high-grade invasive ductal carcinoma with dermal lymphatic invasion, ER-, PR-, HER2+. Breast imaging did not reveal a mass but there was bulky L axillary LAD. Staging workup was negative for metastatic disease. She received 6 cycles of TCHP with complete clinical and radiologic response.
What is the most appropriate surgical approach?
Left total mastectomy and left I/II axillary dissection
A 32yo F presents to your clinic. Her family history is significant for a sister with breast cancer at age 36 yo who underwent BRCA1 and BRCA2 testing which was negative. She also has a grandmother with soft-tissue sarcoma, an uncle with CNS tumor, an uncle with adrenocortical carcinoma, and an aunt with early-onset breast cancer all on her father's side of the family.
What is the likely germline mutation and associated genetic syndrome?
TP53
LiFraumeni syndrome
A 60yo postmenopausal woman presents to her gynecologist with a self-palpated L breast mass. Mammogram and sonogram shows a 4 cm mass with suspicious ipsilateral axillary nodes. Core biopsy from the mass and lymph nodes is consistent with ER+, PR+, HER- invasive ductal carcinoma. Lumpectomy and axillary LN dissection shows a 5 cm invasive carcinoma with negative margins, Grade 2, ER+, PR+, HER-, 5/9 LN +. She receives adjuvant chemotherapy followed by radiation.
What additional therapy do you recommend now?
Anastrozole + abemaciclib
A 56yoF presents for your office with tender RUQ breast mass. Mammogram identifies a 3.5 cm mass as well as abnormal axillary LN. Biopsy demonstrates HR-, HER2+ invasive ductal carcinoma. One lymph node is positive for breast cancer. Baseline echocardiogram shows a normal left ventricular ejection fraction. She has no significant comorbidities.
What is the most appropriate systemic therapy?
TCH (docetaxel, carboplatin, trastuzumab), add pertuzumab for LN+ disease
A 35yoF with a germline BRCA1 mutation presents to the oncology clinic to discuss treatment for her stage II (T2N0) TNBC. She completed chemotherapy per KEYNOTE 522. She underwent R mastectomy, sentinel LN dissection, and contralateral prophylactic mastectomy. Her final stage is ypT1b,ypN0.
What do you offer for next?
Olaparib
A 71yoF with h/o CAD and DVT is found to have a cluster of microcalcifications in the upper outer quadrant of the R breast. A core biopsy demonstrates DCIS. She undergoes partial mastectomy with pathology showing a 15 mm DCIS, grade 2, cribriform type without microinvasion, necrosis, or angiolymphatic invasion. Margins are 5mm except for at the anterior aspect where margin was 0.5 mm from the DCIS. Additional testing shows hormone receptor negative disease.
What is the next best step?
Should you offer systemic therapy?
Re-resection for 2mm margins
No hormone therapy should be offered