Paget’s Disease of the Breast: Symptoms, Causes, Treatment

What are the symptoms of Paget’s disease of the breast?

Paget’s disease of the breast, also known as Paget’s disease of the nipple, is a rare form of breast cancer that affects the skin of the nipple and often the darker circle of skin (areola) around it. The symptoms of Paget’s disease of the breast can resemble those of benign skin conditions, which can sometimes delay diagnosis. Key symptoms include:

Itching or Tingling: The nipple or areola may feel itchy or have a tingling sensation.
Redness and Inflammation: The nipple and areola may appear red, inflamed, or swollen.
Flaking or Scaly Skin: The skin around the nipple may become scaly, flaky, or crusty.
Nipple Discharge: There may be a discharge from the nipple, which can be clear, yellow, or bloody.
Nipple Changes: The nipple may flatten, turn inward (inversion), or change shape.
Burning Sensation: Some individuals may experience a burning sensation in the affected area.
Ulceration: In advanced cases, there may be ulceration or sores on the nipple or areola.
A Lump in the Breast: Although not always present, some individuals with Paget’s disease of the breast may have a lump in the breast. This lump could indicate an underlying breast cancer.

These symptoms can vary in severity and may not all be present. Because these symptoms can mimic other benign conditions, such as eczema or dermatitis, it is essential to seek medical evaluation for a proper diagnosis if any of these symptoms occur. Early diagnosis and treatment are important for the best possible outcomes.

What are the causes of Paget’s disease of the breast?

The exact cause of Paget’s disease of the breast is not fully understood, but it is generally associated with underlying breast cancer. There are two main theories regarding its development:

Epidermotropic Theory: This is the most widely accepted theory. It suggests that cancer cells from an underlying breast carcinoma (usually ductal carcinoma in situ or invasive breast cancer) travel through the milk ducts to the surface of the nipple and areola. These cancer cells then invade the epidermis, leading to the characteristic symptoms of Paget’s disease of the breast.
In Situ Transformation Theory: According to this theory, the cells of the nipple and areola transform into cancerous cells independently, without the spread of cancer cells from an underlying breast cancer. This theory is less commonly supported, as most cases of Paget’s disease are associated with an underlying malignancy.

Risk factors for Paget’s disease of the breast are similar to those for other types of breast cancer and include:

Age: The risk increases with age, particularly in women over 50.
Family History: A family history of breast cancer can increase the risk.
Genetic Mutations: Inherited mutations, such as BRCA1 and BRCA2, can increase the risk of breast cancer, including Paget’s disease.
Hormonal Factors: Long-term exposure to estrogen, such as through hormone replacement therapy, can increase the risk.
Personal History of Breast Cancer: Having had breast cancer in the past increases the risk of developing Paget’s disease.

Because Paget’s disease of the breast is often associated with an underlying breast malignancy, it is important to undergo thorough evaluation and appropriate imaging studies if symptoms are present. Early detection and treatment are crucial for managing this condition.

How is the diagnosis of Paget’s disease of the breast made?

The diagnosis of Paget’s disease of the breast typically involves a combination of clinical examination, imaging studies, and tissue sampling. Here are the key steps in diagnosing the condition:

1. Clinical Examination

A healthcare provider will begin with a thorough physical examination of the breast, including the nipple and areola. They will look for signs such as redness, scaling, and nipple changes, and will inquire about symptoms like itching, pain, or discharge.

2. Imaging Studies

Mammography: This is a primary imaging tool used to examine the breast tissue for underlying abnormalities, such as masses or calcifications, that may indicate the presence of breast cancer.
Ultrasound: This imaging technique can provide additional information, especially in cases where mammography findings are unclear. It is particularly useful for evaluating lumps or changes detected during the clinical examination.
Magnetic Resonance Imaging (MRI): MRI may be used for a more detailed evaluation of the breast tissue, especially if mammography and ultrasound results are inconclusive or if there is a need to assess the extent of the disease.

3. Biopsy

A definitive diagnosis of Paget’s disease of the breast requires a biopsy, where a sample of tissue is taken for microscopic examination. There are several types of biopsies that may be performed:

Skin Biopsy: A small sample of skin from the affected area of the nipple or areola is taken to check for the presence of Paget cells, which are characteristic of the disease.
Nipple Biopsy: A sample from the nipple area can help confirm the presence of cancer cells.
Core Needle Biopsy: This involves using a hollow needle to remove tissue from any lumps or areas of concern in the breast, especially if an underlying breast cancer is suspected.
Excisional Biopsy: In some cases, a larger portion of tissue or the entire lesion may be removed for examination.

4. Pathology Examination

The tissue samples obtained from the biopsy are examined under a microscope by a pathologist. The presence of Paget cells (large cells with clear cytoplasm and prominent nuclei) in the skin of the nipple and areola is a hallmark of Paget’s disease of the breast. The pathologist will also assess for the presence of any underlying breast carcinoma, such as ductal carcinoma in situ (DCIS) or invasive breast cancer.

5. Additional Tests

If an underlying breast cancer is detected, further tests may be conducted to determine the stage of the cancer, which can include additional imaging studies, blood tests, or other diagnostic procedures.

A multidisciplinary team, including a breast surgeon, oncologist, and pathologist, typically manages the diagnostic process and treatment planning for Paget’s disease of the breast.

What is the treatment for Paget’s disease of the breast?

The treatment for Paget’s disease of the breast typically involves a combination of surgery, radiation therapy, and sometimes systemic therapies, depending on the extent of the disease and the presence of any underlying breast cancer. The treatment approach is personalized based on factors such as the size and location of the tumor, the stage of the disease, and the patient’s overall health and preferences. Here are the main treatment options:

1. Surgery

Surgery is the primary treatment for Paget’s disease of the breast. The surgical options include:

Mastectomy: This involves the removal of the entire breast. There are different types of mastectomy:
Total (Simple) Mastectomy: The entire breast tissue, including the nipple and areola, is removed.
Modified Radical Mastectomy: In addition to removing the entire breast, some of the lymph nodes under the arm are also removed.
Breast-Conserving Surgery (Lumpectomy): This involves removing the cancerous tissue along with a margin of healthy tissue while preserving as much of the breast as possible. The nipple and areola are typically removed if involved, but this surgery may be an option for those with small, localized disease.

2. Radiation Therapy

Radiation therapy may be recommended after breast-conserving surgery to eliminate any remaining cancer cells and reduce the risk of recurrence. It involves using high-energy X-rays to target and destroy cancer cells.

3. Systemic Therapy

Systemic therapies may be used depending on the characteristics of the underlying breast cancer:

Hormone Therapy: If the cancer is hormone receptor-positive, medications such as tamoxifen or aromatase inhibitors may be prescribed to block hormones that can promote cancer growth.
Chemotherapy: This may be recommended if there is invasive cancer with a higher risk of spreading or if the disease is more advanced.
Targeted Therapy: For cancers that are HER2-positive, targeted therapies like trastuzumab (Herceptin) may be used.

4. Sentinel Lymph Node Biopsy or Axillary Lymph Node Dissection

If invasive cancer is present, the lymph nodes under the arm may be evaluated to check for the spread of cancer. A sentinel lymph node biopsy involves removing a few key lymph nodes to check for cancer cells. If these are positive, an axillary lymph node dissection may be performed to remove more lymph nodes.

5. Follow-Up Care

Regular follow-up visits are essential after treatment to monitor for any signs of recurrence or complications. This may include physical examinations, imaging studies, and other tests as needed.

The choice of treatment depends on various factors, including the extent of the disease, the patient’s overall health, and personal preferences. A multidisciplinary team of healthcare providers, including surgeons, oncologists, and radiologists, usually collaborates to develop an individualized treatment plan for the patient.

What is the survival rate for Paget’s disease of the breast?

Paget’s disease of the breast, also known as Paget’s disease of the nipple, is a rare type of breast cancer that typically affects the skin of the nipple and, sometimes, the surrounding areola. The survival rate for Paget’s disease of the breast depends on whether there is underlying invasive breast cancer or if it is confined to the skin of the nipple (non-invasive).

Survival Rate Breakdown:

Without underlying breast cancer: If Paget’s disease of the breast is diagnosed early and confined to the nipple and its immediate surroundings (without invasive cancer in the breast tissue), the prognosis is typically very favorable. The 5-year survival rate for these cases can be above 90%.
With underlying invasive breast cancer: The survival rate for Paget’s disease drops significantly if there is invasive ductal carcinoma or other types of breast cancer associated with it. The outcome depends largely on the stage of the invasive cancer at diagnosis:
Early-stage invasive cancer: If the invasive cancer is detected early (Stages I or II), the 5-year survival rate is still relatively high, often ranging between 80-90%.
Advanced invasive cancer: If the disease is more advanced (Stage III or IV) when diagnosed, the 5-year survival rate may be lower, often between 20-60%, depending on factors such as tumor size, lymph node involvement, and metastasis.

Factors Influencing Survival:

Stage of cancer: As with most cancers, earlier detection improves survival outcomes.
Lymph node involvement: Survival rates decrease if the cancer has spread to lymph nodes.
Receptor status: Hormone receptor status (e.g., estrogen or HER2 receptors) can influence treatment options and prognosis.

Early detection and prompt treatment, typically involving surgery (e.g., mastectomy or lumpectomy), radiation, and sometimes chemotherapy or hormone therapy, play key roles in improving survival rates for individuals with Paget’s disease of the breast.