Testicular Leydig cell tumor is a rare form of gonadal stromal tumor originating from the androgen-producing interstitial Leydig cells. It accounts for less than 3% of all testicular neoplasms and is characterized by slow growth with a predominantly benign course in adults. However, about 10% cases may become malignant with metastatic involvement of lymph nodes and other organs. Histologically, the tumor consists of large polygonal cells with eosinophilic cytoplasm containing Reinke crystals, a pathognomonic feature of this disease. The clinical picture varies from asymptomatic to the development of androgen-dependent effects such as gynecomastia, decreased libido, or precocious puberty in children.
History of the disease and interesting historical facts
The first description of the Leydig tumor was presented by the German pathologist Franz von Leydig in 1850. It is interesting to note that it was his research that made it possible to establish a connection between these cells and testosterone secretion. In the 1940s, thanks to the work of Charles Huggins, the mechanisms of androgen production by tumor cells were identified. According to the International Germ Cell Cancer Collaborative Group, over the past 50 years, there has been a gradual increase in the frequency of diagnosis of this pathology, which is associated with the improvement of visualization methods and increased cancer alertness of doctors.
Epidemiology
Analysis of statistical data shows that the incidence of Leydig tumor is approximately 0.2 cases per 1 million population per year. The average age of patients at initial diagnosis ranges from 40 to 50 years, although cases have been reported in both children and people over 70 years of age. According to a study conducted by the European Association of Urology in 2018: "The ratio of malignant to benign forms is 1:9 in adult patients and 1:2 in children." A feature is a higher frequency of occurrence among the white population compared to Asian and African ethnic groups.
Genetic predisposition to this disease
Molecular genetic studies have identified several key mutations associated with the development of Leydig tumor:
- Mutations in the gene CTNNB1, encoding β-catenin
- Activating mutations in the gene GNAQ
- Deletions in the 11p15 region
- Mutations in the genes of the family RAS
According to a study by a team of scientists from the Massachusetts Institute of Technology, “about 30% cases demonstrate activation of the Wnt/β-catenin signaling pathway.”
Risk factors for the development of this disease
The main risk factors include:
- Cryptorchidism and other congenital anomalies of testicular development
- Chronic exposure to endocrine disruptors
- Ionizing radiation
- Industrial chemicals (phthalates, pesticides)
- Dysfunction of the pituitary-gonadal axis
Diagnosis of this disease
The main diagnostic criteria are:
- Palpable mass in the testicle
- Hormonal imbalance (high testosterone)
- Ultrasound of the scrotum revealing a hypoechoic formation
- MRI to assess the extent of the process
- Biopsy with histological examination
It is important to conduct differential diagnostics with other gonadal tumors and inflammatory processes.
Treatment
The therapeutic strategy includes the following areas:
- Radical orchiectomy as the main method of treatment
- Hormonal correction in the development of androgen-dependent effects
- Chemotherapy for metastatic forms (BEP regimen)
- Radiotherapy when surgery is not possible
List of drugs used to treat this disease
- Bleomycin
- etoposide
- Cisplatin
- Glucocorticosteroids
- Antiandrogen drugs
Disease monitoring
Patients require regular monitoring:
- Monitoring tumor markers every 3 months
- Ultrasound of the scrotum every 6 months
- CT scan for suspected metastasis
- Assessment of hormonal status
The prognosis with timely treatment is favorable, however, the risk of relapse remains for 5 years after surgery.
Age-related features of the disease
Clinical manifestations vary significantly depending on the patient's age. In children, the syndrome of premature puberty predominates, while in adults, gynecomastia and other signs of androgen excess are more often observed. In old age, the tumor has a more aggressive course with a high risk of malignant transformation.
Questions and Answers
- What are the first signs that should alert the patient? The appearance of a painless lump in the testicle, an increase in the size of the scrotum, or the development of gynecomastia require immediate medical attention.
- How dangerous is this tumor? In most cases, the tumor is benign, but in malignant cases, metastases to the lymph nodes and internal organs are possible.
- Is it possible to maintain fertility after treatment? In case of unilateral damage and radical orchiectomy, the possibility of having children naturally remains.
Advice from Dr. Oleg Korzhikov
"Patients often ask me if this disease can be avoided. It is important to understand that regular self-examination of the testicles is a key method for early detection of the problem. As for self-treatment, it is absolutely impossible to ignore any changes in the scrotum area. Many are interested in the issues of rehabilitation after surgery - I recommend starting with light physical activity 2-3 weeks after the intervention. Pay special attention to the hormonal status after treatment."
| Diagnostic method | Sensitivity | Specificity |
|---|---|---|
| Ultrasound of the scrotum | 95% | 90% |
| MRI | 98% | 95% |
| Biopsy | 100% | 100% |
