Disease Description (Causes and Symptoms)
- Definition summary: Gonadal and germ cell tumors are a group of tumors that arise in the testes, ovaries, or the midline areas where primordial embryonic germ cells migrate (including the sacrococcygeal region, mediastinum, retroperitoneum, and intracranial sites). They account for a portion of all tumors in children, and their clinical manifestations, treatment, and prognosis vary according to their location and histology.
- Causes and pathophysiology: The exact mechanism of onset is unknown, but genetic predisposition and environmental factors (such as radiation, chemicals, and infections) are thought to be involved. Depending on the cell type, they are classified as germinoma (germinoma/seminoma/dysgerminoma), embryonal carcinoma, choriocarcinoma, yolk-sac tumor (endodermal sinus tumor), teratoma, and others. Specific genetic abnormalities (e.g., 12p gain or i(12p)) may be observed.
- Main symptoms: Depend on the tumor location.
- Testes/ovaries: A palpable mass, pain or pressure, menstrual irregularities (in women), and others.
- Sacrococcygeal region (tailbone area): Initially asymptomatic → constipation, difficulty urinating, pelvic pain, and discomfort when standing.
- Intracranial sites: Headache, vomiting, nausea, visual disturbances, symptoms of increased intracranial pressure, seizures, and others.
- Mediastinum: May be discovered incidentally while asymptomatic, or may cause shortness of breath, chest pain, facial swelling (superior vena cava syndrome), and others.
- Diagnostic adjunctive markers: Blood tumor markers (elevated AFP → yolk-sac tumor; elevated β-hCG → choriocarcinoma; mild elevation of both markers → embryonal carcinoma). Imaging (ultrasound, CT, MRI) and biopsy, when possible, are used for definitive diagnosis.
Treatment Methods and Precautions
- Standard treatment principles:
- Surgery: When complete local resection is possible, radical surgery is performed, taking into consideration testicular removal and whether ovarian preservation is possible. Tumor resection is the key component of first-line treatment.
- Chemotherapy: Chemotherapy is required for metastatic or unresectable tumors and for certain histologic subtypes (e.g., yolk-sac tumors). Regimens frequently used as standard treatment in children and adults include BEP (bleomycin + etoposide + cisplatin) or EP (etoposide + cisplatin). Other drugs, such as ifosfamide, cyclophosphamide, and doxorubicin, may be used depending on the situation.
- Radiotherapy: Radiation is effective for subtypes that are highly radiosensitive, such as intracranial lesions of pure germinoma (germinoma/seminoma types), and some lesions may be cured with radiation therapy alone. In contrast, for germ cell tumors outside the brain, radiation use is generally limited as much as possible, with surgery plus chemotherapy given priority.
- Multidisciplinary approach: Collaboration among medical oncology, surgery, radiation oncology, and pediatric oncology teams is necessary.
- Precautions and complications during treatment:
- Chemotherapy toxicity: cisplatin (neuropathy, nephrotoxicity, ototoxicity), bleomycin (pulmonary toxicity), etoposide (bone marrow suppression and, rarely, secondary leukemia), ifosfamide (neurotoxicity and hemorrhagic cystitis), and others. Monitoring of kidney function, hearing, pulmonary function, and blood tests is necessary.
- Effects on fertility: Damage to testicular or ovarian function is possible — counseling about sperm/egg (ovarian tissue) preservation is recommended before treatment.
- Postoperative complications: Bleeding, infection, and injury to the intestines or urinary tract (during pelvic or retroperitoneal surgery).
- During long-term follow-up, monitoring is necessary for recurrence, metastasis, and chronic treatment-related complications (decreased cardiac, kidney, or lung function and secondary cancers).
- Key points for self-care (lifestyle management):
- During chemotherapy: Take precautions against infection (contact the hospital immediately if fever occurs), manage vomiting and loss of appetite (antiemetics), drink sufficient fluids (to prevent nephrotoxicity), and avoid smoking and respiratory infections (in relation to bleomycin).
- Long-term follow-up: Follow the schedule for regular blood tumor marker tests (AFP and β-hCG) and imaging tests (CT/MRI/ultrasound).
- Fertility preservation counseling: If future fertility is desired, receive counseling before treatment and consider preservation methods.
Checklist Before an Outpatient Visit (Including Items to Bring, Records, and Sample Questions)
- Items/materials to bring:
- A list of all medications currently being taken (prescription, over-the-counter, and supplements)
- A summary of previous surgeries and medical history, and family history (especially cancer and genetic diseases)
- Recent test results (blood tests, AFP and β-hCG levels, and imaging results on CD/DVD or in reports)
- A record of changes in symptoms (when they began, progression, changes in pain, urination, bowel movements, and others)
- Information related to menstruation/fertility (women: menstrual cycle and pregnancy history; men: whether sperm has been stored)
- For pediatric patients, information related to growth, development, and puberty, and accompaniment by a guardian
- Sample questions to organize in advance for the doctor during the outpatient visit:
- What is the emergency contact information and what symptoms require emergency care if symptoms worsen?
- What additional tests are needed before starting treatment (such as fertility preservation and cardiopulmonary function evaluation)?
- What is the treatment plan (surgery, chemotherapy, and radiotherapy), and what is the expected schedule?
Examples of General Questions to Ask the Doctor
- What is the exact histology (subtype) of this disease, and what is its stage?
- What is the recommended first-line treatment, and what is its expected effect (cure rate and recurrence rate)?
- What are the main side effects of the chemotherapy drugs to be used, and how can they be prevented and managed?
- To what extent will the treatment affect fertility, and what preservation options are available?
- What will be the schedule and components of follow-up tests after treatment (AFP/β-hCG, imaging tests, and others)?
Examples of Disease-Specific Questions
- Sample questions for men (testicular lesions):
- "If the testicle is removed through surgery, to what extent will this affect sperm production? Is sperm storage (sperm freezing) possible, and by when should it be done?"
- Sample questions for intracranial or sacrococcygeal lesions:
- "Can the treatment response be monitored based only on changes in blood tumor markers (AFP and β-hCG)? At what intervals should imaging tests be performed?"