Paget's disease of the breast (PDMB) is a rare disorder characterized by erythema, eczema-like changes of the skin around the nipple, which may be accompanied by itching, redness, swelling and discharge. These manifestations are often ignored as symptoms of eczema or dermatitis, which can make early diagnosis of the disease difficult. PDMB is usually associated with invasive breast cancer, which requires special attention and diagnostics for an accurate assessment of the patient's condition. Paget's disease can occur both in isolated cases and in combination with other forms of cancer, which emphasizes the need for a comprehensive approach to its diagnosis and treatment.
History of the disease and interesting historical facts
Paget's disease was first described in 1874 by the British surgeon Sir Joseph Paget. He noticed a connection between changes in the skin of the nipple and tumor diseases of the mammary gland, which allowed us to significantly improve our understanding of this condition. Interestingly, for many years this pathology remained poorly understood, and it was not until the 20th century that serious research into its causes and pathogenesis began. One of the significant contributions to the study of PPD was made in the 1980s, when it was established that skin changes can be associated with extravasation of malignant cells from the internal activity of the mammary gland.
Epidemiology
Paget's disease is a relatively rare disease, accounting for less than 5% of all breast cancer cases. According to statistics, the prevalence of PPD varies from 1 to 3.5 cases per 100,000 women per year. The peak incidence is observed in older women, mainly in the range of 50-70 years. It is also worth noting that PPD is significantly more common in women than in men, which may be due to hormonal changes and structural features of the mammary gland.
Genetic predisposition to this disease
In recent years, studies have identified several genes associated with the development of Paget's disease. The most significant are the BRCA1 and BRCA2 genes, which are responsible for DNA repair and regulate the cell cycle. Mutations in these genes significantly increase the risk of developing both breast cancer and BPC. In addition, the TP53 gene, which is responsible for the control of apoptosis and cell division, also plays an important role in the pathogenesis of this disease. Given the genetic predisposition, genetic testing may be recommended for patients with a high probability of developing this form of cancer.
Risk factors for the development of this disease
There are various risk factors that may contribute to the development of Paget's disease of the breast. These include:
- Age – the risk increases with age, especially after age 50.
- Having a family history of breast cancer – Being related to someone with a history of the disease may increase your risk.
- Having other breast conditions – for example, a hereditary condition such as Li-Fraumenni syndrome.
- Hormonal factors – estrogen levels may influence the risk of developing the disease.
- Contact with chemical carcinogens - Long-term exposure may increase the risk of developing cancer.
Diagnosis of this disease
Diagnosing Paget's disease can be challenging because its symptoms can resemble other skin conditions. Common symptoms include:
- Erythema and eczema-like changes around the nipple.
- Itching and burning in the nipple and areola area.
- Discharge from the nipple, which may be serous or bloody.
- A lump or change in breast tissue.
Laboratory tests may reveal the presence of atypical cells. Radiological examinations such as mammography and ultrasound are key in detecting occult tumors. Secondary methods, including magnetic resonance imaging (MRI), can be used to evaluate the tissue condition in more detail. It is important to differentiate other diseases such as eczema, dermatitis, and infectious processes.
Treatment
Treatment of Paget's disease of the breast requires a multidisciplinary approach. The overall strategy is a comprehensive assessment of the patient's condition, including surgical removal of the tumor, radiation therapy, and pharmacological therapy. Pharmacological treatment includes hormonal therapy and chemotherapy, which may be used depending on the stage and form of the disease. Surgical treatment usually involves mastectomy or segmental resection of the breast. In some cases, adjuvant therapy may be prescribed after surgery to reduce the likelihood of recurrence.
List of medications used to treat this disease
The following groups of drugs can be used to treat Paget's disease:
- Hormonal drugs – tamoxifen, letrozole.
- Chemotherapy drugs – docetaxel, cyclophosphamide.
- Immunotherapy – drugs aimed at activating the immune system against the tumor.
- Pain relievers – to relieve symptoms and side effects of treatment.
Disease monitoring
Monitoring of Paget's disease involves regular check-ups and examinations to detect possible recurrences. Control stages should be carried out at intervals of 3-6 months during the first two years after treatment, and then less frequently. The prognosis varies depending on the stage of the disease at the time of diagnosis and the completeness of the treatment. Complications may include recurrence of the disease and metastases to other organs, which require further medical intervention and correction of therapy.
Age-related features of the disease
Experience shows that Paget's disease develops more often in older women, but cases of the disease at an earlier age are also recorded. In women under 40, the disease may proceed more aggressively and require more serious intervention. At the same time, elderly patients are at risk of concomitant diseases that can complicate the diagnosis and treatment of BPMJ.
Questions and Answers
- What is Paget's disease? - This is breast cancer that manifests itself as changes in the skin around the nipple and may be associated with an invasive form of the oncological process.
- How is Paget's disease diagnosed? — Diagnosis is made on the basis of clinical signs, laboratory and radiological studies.
- What are the main treatments for Paget's disease? — Treatment includes surgery, chemotherapy and hormone therapy, depending on the patient’s condition.
- What is the likelihood of relapse after treatment? — The likelihood of relapse depends on the stage of the disease and the quality of the treatment, but requires constant monitoring.
- Is genetic testing mandatory for BPM? — Genetic testing is recommended to detect mutations, especially in patients with a family history of breast cancer.
