What is the diagnosis and treatment approach for Paget's disease of the breast presenting with nipple discharge?

Diagnosis and Treatment of Paget's Disease of the Breast with Nipple Discharge

Paget's disease of the breast presenting with nipple discharge requires prompt diagnostic evaluation with skin/nipple biopsy, followed by appropriate imaging to detect underlying malignancy, and treatment typically involves surgical management with either breast conservation or mastectomy based on disease extent. 1

Clinical Presentation and Diagnosis

Key Clinical Features

• Paget's disease most commonly presents with:
  • Eczema of the nipple or areola
  • Bleeding
  • Ulceration
  • Itching of the nipple
  • Nipple discharge (may be clear, serous, serosanguineous, or bloody)
  • Nipple excoriation and scaling 1

Diagnostic Algorithm

1. Initial Evaluation:

   • Bilateral diagnostic mammogram with or without ultrasound imaging 1
   • For women <30 years: Ultrasound first, followed by consideration of mammography
   • For women ≥30 years: Both diagnostic mammogram and ultrasound 1

2. Biopsy:

   • Regardless of imaging results, a skin/nipple biopsy is essential as pure Paget's disease can be occult on mammography 1
   • Full-thickness skin biopsy of the nipple-areolar complex is required 1
   • Punch biopsy or nipple biopsy is recommended 1

3. Additional Imaging:

   • If initial imaging is negative or inconclusive, breast MRI is recommended to define disease extent and identify additional disease 1, 2
   • MRI has superior sensitivity when mammography and ultrasound are negative, with detection rates of 19-96% 3, 2

Important Diagnostic Considerations

• Diagnosis is often delayed due to confusion with other dermatologic conditions 1
• A negative mammogram does not exclude Paget's disease 1
• In 80-90% of cases, Paget's disease is associated with underlying breast cancer (either DCIS or invasive) 1
• The underlying cancer may not be adjacent to the nipple-areolar complex 1

Treatment Approach

Surgical Management Options

1. Mastectomy:

   • Traditional approach: total mastectomy with axillary dissection 1
   • Remains a reasonable option regardless of presence/absence of associated breast cancer 1
   • Consider for extensive disease or when breast conservation is not feasible

2. Breast-Conserving Surgery:

   • Recent data support breast conservation with negative margins 1
   • Includes:
     • Excision of nipple-areolar complex with negative margins
     • Removal of any underlying cancer with standard breast-conserving technique
     • Followed by whole-breast radiation therapy 1
   • Local recurrence rates are similar to those with typical invasive or in situ cancer treated with breast conservation 1, 4
   • 10-year local recurrence rates: 8% for mastectomy vs. 16% for breast conservation 4

3. Specific Surgical Approaches:

   • For Paget's without associated cancer: Remove entire nipple-areolar complex with negative margin of underlying breast tissue 1
   • For Paget's with associated cancer elsewhere: Remove nipple-areolar complex with negative margin plus removal of peripheral cancer 1
   • Note: It is not necessary to remove the nipple-areolar complex and peripheral cancer in continuity 1

Axillary Management

• For Paget's with underlying DCIS only: Axillary lymph node staging not necessary with breast conservation 1
• For Paget's with invasive cancer: Perform axillary staging according to standard guidelines 1
• For mastectomy cases: Consider axillary staging even with DCIS, as final pathology may reveal invasive cancer 1

Systemic Therapy

• Based on the stage and biological characteristics of any underlying cancer 1
• Follow standard breast cancer treatment guidelines based on pathology findings

Prognosis and Follow-up

• Patients with non-invasive Paget's disease have excellent outcomes 4
• Risk factors for breast cancer death and recurrence include:
  • Underlying invasive cancer (vs. in situ disease)
  • Presence of a palpable tumor in the breast 4
• Breast cancer-specific survival at 10 years: 87% for operated patients 4
• Disease-free survival at 10 years: 82% for operated patients 4

Important Considerations and Pitfalls

• Do not dismiss nipple changes as benign dermatologic conditions without thorough evaluation 3
• Do not rely solely on imaging; biopsy is essential as Paget's can be occult on imaging 1
• Avoid delaying diagnosis due to confusion with other conditions like eczema or mastitis 5
• Remember that approximately half of local recurrences after treatment for pure DCIS are invasive cancer 1

Paget's disease of the breast with nipple discharge represents a rare but important presentation that requires prompt and thorough evaluation to ensure optimal outcomes.