Resident Editor: Hailyn Nielsen, MD, PhD

Faculty Editor: Leah Karliner, MD, MAS

Background

• Most are caused by benign breast disease
• ~30% women with breast cancer are <50 yrs of age

Signs and Symptoms

• Palpable breast mass
• Change in general breast appearance (size, symmetry)
• New or persistent skin changes
• New nipple dimpling, inversion, or discharge 
• Presence of new breast pain

Differential diagnosis

Benign breast disease: 

• Fibroadenoma
• Cyst
• Fibrocystic change
• Galactocele
• Fat necrosis (often precipitated by trauma)
• Abscess
• Diabetic mastopathy
• Lipoma
• Intraductal papilloma
• Usual ductal hyperplasia
• Sclerosing adenitis
• Atypical hyperplasia
• Hamartoma
• Adenoma
• Idiopathic granulomatous stromal hyperplasia

Malignant breast disease:

• Invasive breast cancer
• DCIS
• LCIS
• Sarcoma
• Lymphoma
• Phyllodes

Evaluation

• History – evaluate for the following:
  • Signs and symptoms as above
  • History of change in size of massover time or with menstrual cycle
  • Recent breast traums
  • Risk factors for breast cancer
    • Radiation exposure
    • Age at menarche, menopause
    • Pregnancy history
    • Tobacco use
    • Hormone therapy, past or present
    • Hormonal birth control, past or present
    • Family history of breast, ovarian, colon cancer and age of onset
• Clinical breast exam: 
  • Best performed roughly one week after onset of menses
  • General breast appearance (asymmetry, visible mass)
  • Skin changes (erythema, dimpling, peau d’orange, ulceration)
  • Nipple changes (inversion, retraction, discharge)
  • Palpable mass
    • Size: measure diameters in cm
    • Position: note # cm from areola and o’clock position
    • Texture: soft, firm, or hard
    • Borders: discrete or ill-defined
    • Fixed or mobile
    • Tenderness
• Lymph node exam: chest, axillae, supraclavicular, infraclavicular, cervical region

If you do not find a dominant mass but the patient reports an abnormality:

What the patient is feeling may represent normal nodular breast tissue. Nodularity is ill-defined, often bilateral, and fluctuates with a woman’s menstrual cycle. If you are not confident in your exam, ask a preceptor/colleague to assist you, and consider referring to a breast specialist for an expert exam. Otherwise, have the patient return in 2-3 months at a different point in her menstrual cycle (if premenopausal) for a repeat exam to ensure no dominant mass develops. The best time to examine is one week after menses when the breast tissue is least engorged.

Diagnostic work-up

• Options include ultrasound, mammogram, MRI, fine needle aspiration (FNA), core needle biopsy, or excisional biopsy.  
• Approach depends on age, whether the patient is pregnant, and locally available expertise

Age < 30 or pregnant:

• Important to discuss options, come to agreement, and document discussion well.
• Option #1: Ultrasound. The primary use of ultrasound is to classify the mass as cystic or solid. It can also provide guidance for cyst aspiration or biopsy. Consider ordering simultaneous FNA if complex cyst or solid mass seen; this will allow for immediate tissue sampling.  Possible results on ultrasound:
  • Cystic mass
    • “Simple cyst”: 
      • Benign
      • Only aspirate if symptomatic 
      • Follow-up with exam in 1 year
    • “Complicated cyst”: 
      • <1% are malignant. 
      • Options to discuss with patient:
        • Repeat physical exam and ultrasound every 6 -12 months for 1-2 years and refer for FNA if grows. 
        • Refer for FNA immediately if not done at time of ultrasound.
    • “Complex cyst” (walls or septae, solid components, vascular flow): Refer immediately for FNA or core biopsy.
  • Solid mass
    • “Likely benign” (e.g. fibroadenoma): Options to discuss with patient:
      • Repeat physical exam and ultrasound every 6-12 months for 1-2 years to ensure stability and refer for FNA or core biopsy if grows.
      • Refer for FNA if not done at time of ultrasound.
    • “Suspicious”: Refer for core biopsy.
  • No mass seen. Options to discuss with patient:
    • Mammogram if not already done (e.g. under 30, but high-risk family hx).
    • Repeat physical exam and ultrasound every 3-6 months for 1-2 years to ensure stability and refer for FNA or core biopsy if grows.
    • Refer for FNA or core biopsy immediately.
• Option #2: In-office or pathologist cyst-aspiration without ultrasound. Primary use is to confirm that the mass is cystic. Secondarily it can relieve pain/pressure from a symptomatic cyst. Advantage is immediate diagnosis and treatment if non-bloody fluid is obtained and cyst fully collapses.
  • In-office: use a 20-23 gauge needle and syringe after consenting patient and prepping area.  Possible results on cyst aspiration:
    • Cystic fluid obtaine 
      • Fluid is not brown or red; there is no residual mass on exam.
      • Follow-up in 1-3 months to ensure there is no re-accumulation of fluid or residual mass; if there is, then further work-up with ultrasound per “option #1”.
    • Fluid is bloody.
      • Send to pathology, and proceed with ultrasound and possible mammography; consider referral to breast specialist.
    • No cystic fluid obtained
      • Further work-up with ultrasound per “option #1”.
• Option #3: Follow-up in 1-2 months to reexamine. If mass persists, proceed to aspiration or ultrasound.            

Age ≥ 30 and not pregnant:

• Order a diagnostic (not screening) mammogram
  • If mammogram is suggestive of malignancy, refer for core needle biopsy.
  • If mammogram is normal, make sure to order an ultrasound (see next bullet), since 10-20 percent of palpable breast cancers are not visible on mammogram.
• Consider ordering an ultrasound at same time as mammogram, with simultaneous FNA biopsy if possible to allow for immediate tissue sampling.
• If mammogram is abnormal (BI-RADS 4 or 5) and FNA biopsy is done at the time of mammogram but it is negative, proceed to core biopsy as this could be a sampling issue.

When to Refer

• When tissue sample desired
• Generally, you can refer patients either for FNA biopsy or core biopsy. Excisional biopsy is done in special situations.
• Fine-needle aspiration (FNA) biopsy: Can be palpation- or ultrasound-guided, and therefore can be done by radiologists at the same time as the ultrasound itself. Can also be done in FNA clinic by pathologists (e.g. to drain a palpable simple cyst). ~10 percent are non-diagnostic (higher rate than core biopsies). Sensitivity is operator dependent; for experienced personnel 92-98% sensitive; for untrained personnel 75% sensitive. Cannot distinguish in-situ from invasive carcinoma because cannot capture tissue architecture; requires an experienced cytopathologist to interpret results. A non-diagnostic result in the setting of a discrete mass requires further work-up (e.g. with core needle biopsy).
• Core needle biopsy: Can be done by radiologists under ultrasound or mammographic guidance. Stereotactic biopsy (mammographic guidance) is especially useful for lesions defined only by calcifications on mammography (cannot be visualized by ultrasound), and is performed on a special table allowing real-time mammography. Primary use is for diagnosis of solid masses and follow-up of non-diagnostic FNA biopsy. Core biopsy can distinguish in-situ from invasive disease. 
• Excisional biopsy: Done by breast surgery. Done for non-diagnostic core biopsies and aspirated cysts that do not completely resolve or recur.

References:

NCCN Guidelines Version 1.2012: Breast Cancer Screening and Diagnosis. www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf

Klein S. 2005. Evaluation of Palpable Breast Masses. Am Fam Physician. May 1;71(9):1731-1738. http://www.aafp.org/afp/2005/0501/p1731.html

Loving VA, DeMartini WB, Eby PR et al. 2010. Targeted ultrasound in women younger than 30 years with focal breast signs or symptoms. AJR. 195: 1472-1477.

Pruth S. 2001. Detection and evaluation of a palpable breast mass. Mayo Clin Proc. 76: 641-648.

Stein L, Chellman-Jeffers M. 2009. The radiologic workup of a palpable breast mass. Cleveland Clinic Journal of Medicine. 76: 175-180.