How is Paget disease of the breast diagnosed?

A nipple biopsy allows doctors to correctly diagnose Paget disease of the breast. There are several types of nipple biopsy, including the procedures described below.

  • Surface biopsy: A glass slide or other tool is used to gently scrape cells from the surface of the skin.
  • Shave biopsy: A razor-like tool is used to remove the top layer of skin.
  • Punch biopsy: A circular cutting tool, called a punch, is used to remove a disk-shaped piece of tissue.
  • Wedge biopsy: A scalpel is used to remove a small wedge of tissue.

In some cases, doctors may remove the entire nipple (1). A pathologist then examines the cells or tissue under a microscope to look for Paget cells.

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Most people who have Paget disease of the breast also have one or more tumors inside the same breast. In addition to ordering a nipple biopsy, the doctor should perform a clinical breast exam to check for lumps or other breast changes. As many as 50 percent of people who have Paget disease of the breast have a breast lump that can be felt in a clinical breast exam. The doctor may order additional diagnostic tests, such as a diagnostic mammogram, an ultrasound exam, or a magnetic resonance imaging scan to look for possible tumors (1, 2).

How is Paget disease of the breast treated?

For many years, mastectomy, with or without the removal of lymph nodes under the arm on the same side of chest (known as axillary lymph node dissection), was regarded as the standard surgery for Paget disease of the breast (3, 4). This type of surgery was done because patients with Paget disease of the breast were almost always found to have one or more tumors inside the same breast. Even if only one tumor was present, that tumor could be located several centimeters away from the nipple and areola and would not be removed by surgery on the nipple and areola alone (1, 3, 4).

Studies have shown, however, that breast-conserving surgery that includes removal of the nipple and areola, followed by whole-breast radiation therapy, is a safe option for people with Paget disease of the breast who do not have a palpable lump in their breast and whose mammograms do not reveal a tumor (3–5).

People with Paget disease of the breast who have a breast tumor and are having a mastectomy should be offered sentinel lymph node biopsy to see whether the cancer has spread to the axillary lymph nodes. If cancer cells are found in the sentinel lymph node(s), more extensive axillary lymph node surgery may be needed (1, 6, 7). Depending on the stage and other features of the underlying breast tumor (for example, the presence or absence of lymph node involvement, estrogen and progesterone receptors in the tumor cells, and HER2 protein overexpression in the tumor cells), adjuvant therapy, consisting of chemotherapy and/or hormonal therapy, may also be recommended.