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Trophoblastic Neoplasm

Disease Details

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Description: Trophoblastic neoplasm is a group of rare tumors that involve abnormal growth of cells inside a woman's uterus, originating from the placental tissue.
Type: Trophoblastic neoplasm is a type of gestational trophoblastic disease (GTD) that arises from abnormal growth of trophoblastic cells, which are cells that normally develop into the placenta during pregnancy. These neoplasms include conditions like hydatidiform mole, invasive mole, choriocarcinoma, and placental-site trophoblastic tumor. The type of genetic transmission for trophoblastic neoplasms is generally sporadic, meaning they are not inherited in a predictable pattern and typically occur due to genetic abnormalities during fertilization.
Signs And Symptoms: The symptoms of GTN will vary from person to person. People with the same disease may not have all the symptoms listed.
Most common presenting symptom is vaginal bleeding, which is associated with mild elevation of serum β hCG (< 2,500 IU/L). Vaginal bleeding may also occur after delivery that continues for longer than normal.
A uterus that is larger than expected during pregnancy
Pain or pressure in the pelvis.
Severe nausea and vomiting during pregnancy.
High blood pressure with headache and swelling of feet and hands early in the pregnancy.
Fatigue, shortness of breath, dizziness, and a fast or irregular heartbeat caused by anemia.
If metastases are present, signs and symptoms associated with the metastatic disease and more severe symptoms may be present.
Prognosis: FIGO modified Prognostic Scoring System. The system evaluates the patients to those with GTN as low-risk and high-risk based on several risk factors such as age, pregnancy or interval of pregnancies, size or metastases of tumor and prior chemotherapy. Each risk factors are rated at levels 0-4 scores. The numbers are then added up, and the overall score determines a woman's risk level.

Women with a score of 6 or less are at low risk and tend to have a good prognosis regardless of how far the cancer has spread which usually respond well to chemotherapy.
Women with a score of 7 or more are at high risk, and their tumors tend to respond less well to chemotherapy, even if they haven't spread much. They may require more intensive chemotherapy.Therefore, some studies have shown that the condition is harder to cure if the cancer has spread to the liver or brain or β-hCG level is higher than 40,000 mIU/mL when treatment begins, cancer returns after having chemotherapy or symptoms/ pregnancy occurred for more than 4 months before treatment.
Onset: The onset of trophoblastic neoplasm can vary but often occurs during or after a molar pregnancy, and sometimes following normal pregnancy, miscarriage, or abortion. Specific timing can range from weeks to months after the triggering event. Symptoms may include abnormal uterine bleeding, high levels of human chorionic gonadotropin (hCG), and an enlarged uterus. Early diagnosis and treatment are crucial for effective management.
Prevalence: Trophoblastic neoplasms, specifically gestational trophoblastic disease (GTD), are relatively rare. The prevalence of GTD varies by region and population, but in general, it is estimated to occur in about 1 in every 1,000 pregnancies in North America and Europe. The incidence is higher in some Asian and African countries, where it may range from 1 in 500 to 1 in 200 pregnancies.
Epidemiology: According to studies, GTN is found more frequently in Asia compared to North America or Europe. As of 2020, the reported incidence of choriocarcinoma ranges from 1 in 40 000 pregnancies in North America and Europe, to 9.2 and 3.3 per 40 000 pregnancies in Southeast Asia and Japan, respectively. Epidemiological studies have reported that hydatidiform mole appears to be caused by abnormal gametogenesis and fertilization more frequent at the extremes of reproductive age of younger than 15 and older than 45 years of age and pregnancies at these ages are a risk factor for hydatidiform mole. The risk increases after age 35 and there is a 5–10 times increased risk after 45 years.
Intractability: Trophoblastic neoplasms, including gestational trophoblastic disease (GTD), are generally not considered intractable. Many types, such as hydatidiform mole, choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor, are often highly responsive to treatments like chemotherapy and surgery, especially when diagnosed early. However, treatment outcomes can vary based on factors like the specific type of trophoblastic disease, the patient's overall health, and whether the disease has spread. Most cases can be effectively managed with appropriate medical intervention.
Disease Severity: Trophoblastic neoplasm can vary significantly in severity, ranging from benign conditions like hydatidiform mole to malignant forms such as choriocarcinoma. Benign forms are generally less severe and more manageable, while malignant forms can be aggressive, requiring intensive treatment and having the potential for significant morbidity and mortality. Early diagnosis and appropriate treatment are crucial for managing the disease effectively.
Healthcare Professionals: Disease Ontology ID - DOID:4085
Pathophysiology: All types of gestational trophoblastic neoplasia originate from the placenta. A placenta develops in the uterus during pregnancy and becomes first site of nutrient and gas exchange between mother and fetus. It has two components such as fetal component and mother component. A fetal component is composed of cytotrophoblast and syncytiotrophoblast. The exact pathogenesis of choriocarcinoma has not been fully understood, but studies have shown cytotrophoblast cells function as stem cells and transform into malignant form. The neoplastic cytotrophoblast further differentiates into either intermediate trophoblasts or syncytiotrophoblast.
Carrier Status: Trophoblastic neoplasms refer to a group of rare tumors that involve abnormal growth of cells inside a woman's uterus. These conditions do not typically involve a carrier status, as they are not inherited in a manner similar to genetic diseases carried through generations. Instead, they result from complications related to pregnancy, such as molar pregnancies.
Mechanism: Trophoblastic neoplasms, specifically gestational trophoblastic diseases (GTD), are a group of conditions originating from abnormal trophoblastic cells in pregnancy. They include hydatidiform mole, invasive mole, choriocarcinoma, and placental site trophoblastic tumor. The mechanism involves abnormal proliferation of trophoblastic tissue, which is normally responsible for embryo implantation and placental development.

**Molecular Mechanisms:**

1. **Genetic Abnormalities:** Mutations and abnormal genetic imprints from paternal DNA are often implicated. Complete hydatidiform moles, for example, generally result from the fertilization of an egg without maternal genetic material by one or two sperm.

2. **Epigenetic Changes:** Aberrant methylation patterns and other epigenetic modifications play a role in the development of trophoblastic neoplasms. These can affect gene expression without altering the DNA sequence.

3. **Oncogene Activation and Tumor Suppressor Gene Inactivation:** Mutations in oncogenes and the inactivation of tumor suppressor genes can lead to uncontrolled cell growth. For instance, alterations in the expression of p53 and its pathway may be involved in the pathogenesis.

4. **Immune Evasion:** The trophoblastic cells in these neoplasms often develop mechanisms to evade the maternal immune response, allowing for abnormal cell proliferation and tumor growth.

Understanding these molecular mechanisms is crucial for developing targeted treatments and improving diagnostic strategies for patients with trophoblastic neoplasms.
Treatment: Several treatment methods are available for GTN that include surgery, chemotherapy or combination of these. Surgery treatment is most common initial method for some types of the disease but it depends on the stage of the tumor. Common surgical options include dilation and curettage, and hysterectomy.
Compassionate Use Treatment: For trophoblastic neoplasm, which includes conditions such as gestational trophoblastic disease (GTD) and choriocarcinoma, compassionate use treatments, off-label, or experimental options may be considered in certain cases where standard therapies are ineffective or unavailable. These treatments might include:

1. **Immune Checkpoint Inhibitors**: Off-label use of immune checkpoint inhibitors, such as pembrolizumab or nivolumab, has been explored in persistent or resistant trophoblastic neoplasms.

2. **Targeted Therapy**: The investigational use of agents such as tyrosine kinase inhibitors (e.g., sunitinib) has been reported in cases resistant to conventional chemotherapies.

3. **Combination Chemotherapies**: Experimental combinations of chemotherapeutic agents beyond the standard EMA-CO (etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine) or BEP (bleomycin, etoposide, and cisplatin) regimens.

4. **Clinical Trials**: Participation in clinical trials investigating new drugs or treatment regimens specifically for trophoblastic neoplasms.

These options are typically considered by oncologists within a specialized medical setting and often require meticulous oversight due to the experimental nature of these treatments.
Lifestyle Recommendations: For patients with trophoblastic neoplasm, lifestyle recommendations primarily focus on supporting overall health and managing treatment side effects. These may include:

1. **Healthy Diet**: Consume a balanced diet rich in fruits, vegetables, whole grains, and lean proteins. Adequate nutrition can help maintain strength and overall well-being.

2. **Regular Physical Activity**: Engage in moderate exercise as tolerated. Physical activity can improve mood, energy levels, and overall health.

3. **Adequate Hydration**: Ensure proper fluid intake to avoid dehydration, especially important during treatments like chemotherapy.

4. **Stress Management**: Practice relaxation techniques such as meditation, yoga, or deep breathing exercises to reduce stress and improve mental health.

5. **Avoid Smoking and Limit Alcohol**: Smoking and excessive alcohol consumption can negatively impact health and interfere with treatment efficacy.

6. **Follow Medical Advice**: Adhere to treatment plans and attend all follow-up appointments to monitor health and treatment progress.

7. **Seek Support**: Emotional and mental health support from counseling or support groups can be beneficial.

Always consult with healthcare providers for specific lifestyle recommendations tailored to individual health conditions and treatment plans.
Medication: Trophoblastic neoplasms are treated with various medications, depending on the specific type and stage of the disease. Common medications used include:

1. **Methotrexate** - Often used in low-risk gestational trophoblastic neoplasia.
2. **Dactinomycin (Actinomycin D)** - Another option for low-risk cases, sometimes used when methotrexate is not effective.
3. **Cyclophosphamide** - Used in more aggressive or resistant cases.
4. **Etoposide** - Frequently included in multi-agent chemotherapy regimens.
5. **Cisplatin** and **Carboplatin** - Used in combinations for high-risk or recurrent disease.
6. **Vincristine** - Part of combination therapies for high-risk cases.

Combination chemotherapy regimens often include EMA-CO (Etoposide, Methotrexate, Actinomycin D, Cyclophosphamide, and Vincristine) for high-risk or metastatic disease.

Consult a healthcare professional for personalized medical advice and treatment plans.
Repurposable Drugs: Trophoblastic neoplasms are a group of rare tumors that involve abnormal growth of cells inside a woman's uterus. They are often associated with pregnancy and can include conditions like hydatidiform mole, invasive mole, choriocarcinoma, and placental-site trophoblastic tumor.

Repurposable drugs that have been studied or used in the management of trophoblastic neoplasms include:

1. **Methotrexate**: Commonly used as a chemotherapy agent for low-risk gestational trophoblastic disease (GTD).
2. **Actinomycin D (Dactinomycin)**: Another chemotherapy drug used for low-to-moderate risk GTD.
3. **Etoposide**: Sometimes used in combination chemotherapy regimens for higher-risk cases.
4. **Cisplatin**: Occasionally used as part of combination chemotherapy.
5. **Cyclophosphamide**: Included in some multi-drug chemotherapy protocols.

Repurposing these drugs in trophoblastic neoplasms has been advantageous due to their efficacy in disrupting rapidly dividing cells, a hallmark of cancerous tissues.

Feel free to ask for more details or specific aspects of treatment or drugs related to trophoblastic neoplasms.
Metabolites: Trophoblastic neoplasms produce several distinct metabolites, with the most notable being human chorionic gonadotropin (hCG). Elevated levels of hCG are often used as a marker for diagnosis and monitoring of these tumors. Other metabolites and tumor markers can include human placental lactogen (hPL) and alpha-fetoprotein (AFP) in certain cases.
Nutraceuticals: Currently, there is limited research on the efficacy of nutraceuticals in the treatment or management of trophoblastic neoplasms. Trophoblastic neoplasms, including gestational trophoblastic disease (GTD), are typically treated with standard medical interventions such as chemotherapy, surgery, and close monitoring by healthcare professionals. It is important to follow evidence-based medical advice and consult with a specialist for the most appropriate treatment options.
Peptides: Trophoblastic neoplasm refers to a group of rare tumors that involve abnormal growth of trophoblastic cells, which are cells that normally develop into the placenta during pregnancy. These neoplasms are categorized mainly into four types: hydatidiform mole (complete and partial), invasive mole, choriocarcinoma, and placental site trophoblastic tumor.

Peptides, such as human chorionic gonadotropin (hCG), play a crucial role in the management and diagnosis of trophoblastic neoplasms. Elevated levels of hCG are often used as a marker to diagnose and monitor the treatment of these conditions.