Clinical Assessment and Imaging of Breast Disease

Introduction

Breast disease diagnosis relies on a comprehensive approach that combines clinical assessment and imaging techniques to ensure accurate detection and management. Patients often present with symptoms such as breast masses, pain, nipple discharge, or skin changes, prompting a detailed medical history, physical examination, and advanced imaging modalities like mammography, ultrasound, and MRI. Understanding risk factors, including genetic predispositions and lifestyle influences, further enhances diagnostic precision. This guide explores the essential steps in evaluating breast disease, from initial assessment to biopsy methods, ensuring optimal patient care.

1. Patient History

• Common Reasons for Seeking Medical Attention:
  • Abnormal mammogram, breast mass, breast pain, nipple discharge, and/or skin changes.
• Comprehensive Medical History:
  • Description and duration of symptoms and their relationship to pregnancy, menstrual cycle, or trauma.
  • Mammogram history.
  • Previous breast biopsies and surgeries.
  • History of oral contraceptives and/or hormone replacement therapy.
  • Menstrual history: Date of last menstrual period, regularity, age of menarche.
  • Reproductive history: Number of pregnancies, age at first full-term pregnancy, lactation history.
  • Menopause history: Age at natural or surgical menopause (e.g., oophorectomy).
  • Family history: At least two generations, including breast, ovarian, colon, prostate, gastric, and pancreatic cancers, as well as genetic testing results.
• Assessment of Cancer Risks:
  • Hormonal, environmental, and genetic factors.
  • Reproductive and lifestyle factors (e.g., early menarche, late first pregnancy, obesity, alcohol consumption).
  • Hereditary breast cancer: Accounts for 5%–10% of cases, with BRCA1 and BRCA2 mutations being the most common.
    • BRCA1: 85% risk of breast cancer by age 70, 50% risk of a second primary breast cancer, and 20%–40% risk of ovarian cancer.
    • BRCA2: Slightly lower risks but accounts for 4%–6% of male breast cancers.
  • Other moderate-penetrance genes include CHEK2, PALB2, ATM, and PTEN.

2. Physical Examination

• Inspection:
  • Examine breasts in upright and supine positions.
  • Look for asymmetry, skin changes (erythema, edema, dimpling), nipple changes (retraction, discharge), and lymphadenopathy (axillary, supraclavicular, infraclavicular).
• Palpation:
  • Systematically examine each quadrant and the nipple-areolar complex.
  • Assess size, shape, consistency, and mobility of masses.
  • Benign tumors (e.g., fibroadenomas, cysts) are typically well-circumscribed and movable, while carcinomas are firm, less circumscribed, and may drag adjacent tissue.
• Special Signs:
  • Peau d’orange: Skin edema due to lymphatic obstruction, often seen in inflammatory carcinoma.
  • Paget disease: Eczematoid changes of the nipple, often associated with underlying ductal carcinoma.

3. Breast Imaging

• Screening Mammography:
  • Performed in asymptomatic patients with two standard views: mediolateral oblique and craniocaudal.
  • Tomosynthesis (3D mammography): Improves sensitivity and specificity, especially in women with dense breasts.
  • Screening recommendations:
    • US Preventive Task Force: Annual screening starting at age 50.
    • American Cancer Society: Annual screening starting at age 45.
• Diagnostic Mammography:
  • Used for symptomatic patients or to follow up on abnormalities.
  • Additional views (e.g., spot-compression, magnification) may be required.
• BI-RADS Classification:
  • Used to categorize mammographic findings (Table 1).

Table 1: BI RADS Classification:

• Ultrasound Imaging:
  • Useful for distinguishing cystic from solid lesions and evaluating dense breasts.
  • Not a standalone screening tool due to high false-positive rates.
• MRI:
  • Used for high-risk patients, assessing tumor extent, and evaluating occult primary cancers.
  • Sensitivity: >90% for invasive cancer but lower for DCIS.
  • Specificity: Moderate, with significant false-positive rates.

4. Breast Biopsy

• Fine-Needle Aspiration Biopsy (FNAB):
  • Determines malignant cells and receptor status but cannot distinguish invasive from noninvasive cancer.
• Core Needle Biopsy (CNB):
  • Preferred method; provides information on tumor grade, invasion, and receptor status.
  • Can be performed under ultrasound, mammographic (stereotactic), or MRI guidance.
• Excisional Biopsy:
  • Used when CNB is inconclusive or for high-risk lesions (e.g., atypical ductal hyperplasia, radial scar).
• Stereotactic Core Biopsy:
  • Used for nonpalpable lesions (e.g., microcalcifications).
  • A metallic clip is often placed to mark the biopsy site.

5. Triple Assessment

• Combines clinical examination, imaging, and tissue sampling (cytology or histology) for diagnosis.
• Positive Predictive Value (PPV): Exceeds 99.9% when all three components are concordant.

6. Special Considerations

• High-Risk Patients:
  • Annual mammography and semiannual physical exams starting at age 25–30 for those with genetic mutations.
  • MRI screening for patients with BRCA mutations, Li-Fraumeni syndrome, or Cowden syndrome.
• Inflammatory Breast Cancer:
  • Diagnosed clinically with skin punch biopsy if skin involvement is present.
• Nonpalpable Lesions:
  • Localized using wire-guided or radioactive seed techniques for surgical excision.

Table 2: Risk Factors for Breast Cancer