Familial gestational trophoblastic disease

Familial molar pregnancies and gestational trophoblastic disease are exceedingly rare. In this case report, a family including four sisters and their cousin had molar pregnancies. Eldest sister had repeated molar pregnancies. Second sister had early abortion at her first pregnancy and partial molar pregnancy following blighted ovum by intrauterine insemination at her second pregnancy. Third sister had two molar pregnancies in a 2-year interval. Fourth and youngest sister has had gestational trophoblastic disease stage 1, following complete molar Pregnancy at her first pregnancy. A paternal-related cousin of this family has had gestational trophoblastic disease following complete molar pregnancy at her first pregnancy. No members of this family, except eldest sister, has given birth to a child. CONCLUSION: complete and partial moles, repeated moles, gestational trophoblastic disease, early abortion, blighted ovum, and secondary infertility in this family demonstrate that a defective ovum with abnormal maternal genetic component is responsible.     

Repeat gestational trophoblastic disease

During a ten-year period from 1969 through 1979, 22 of 1648 patients referred to the John I. Brewer Trophoblastic Disease Center of Northwestern University Medical School had repeat gestational trophoblastic disease, an incidence of 1.33%. A total of 52 trophoblastic disease episodes occurred in these 22 patients. Invasive mole or choriocarcinoma occurred as the first trophoblastic disease episode in only three patients (14%), whereas one of these sequelae was the second trophoblastic disease event in seven patients (32%). Seventeen patients (77%) had consecutive trophoblastic disease episodes. After a second trophoblastic disease episode, the risk for a subsequent event rose to 28%; however, 44% of these patients delivered viable infants. There was no difference in outcome of subsequent pregnancies with respect to previous chemotherapy.     

Nonmetastatic gestational trophoblastic disease

Nonmetastatic gestational trophoblastic disease encompasses a variety of related neoplasms of the human placenta. With the advent of effective chemotherapy, nearly all of these patients can be cured using a variety of regimens with acceptable toxicity. Hysterectomy is useful in selected patients to decrease the amount of chemotherapy required to produce remission and to salvage patients who have failed initial chemotherapy. The majority of patients can retain child-bearing capacity and often have normal pregnancies after therapy.     

妊娠滋养细胞疾病误诊问题

妊娠滋养细胞疾病常与妊娠有关联,故需与流产、异位妊娠、双胎妊娠等相鉴别;而妊娠滋养细胞肿瘤因有病灶转移甚至破裂,可有脑血管意外、急腹症等表现,另外,还常需与人流或药流后、产后胎盘残留、宫角妊娠等相鉴别。     

Choriocarcinoma and gestational trophoblastic disease

Gestational trophoblastic disease (GTD) encompasses a unique group of uncommon but interrelated conditions derived from placental trophoblasts. For the purposes of discussion GTD is the appropriate collective name for hydatidiform mole, whereas the term gestational trophoblastic neoplasia (GTN) is reserved for cases with persistent human chorionic gonadotropin (hCG) titer elevation after evacuation of hydatidiform mole, metastatic disease, or choriocarcinoma. Although the pathology and clinical behavior of CM and PM are different, the initial management of both conditions is surgical evacuation by suction curettage, determination of the baseline, and follow-up with (hCG) titers. There are guidelines for risk-factor scoring and a staging system that classifies untreated patients into distinct prognostic categories so that treatment outcomes can be objectively compared. The rates of GTN and choriocarcinoma are decreasing and survival has dramatically improved.     

Low-risk metastatic gestational trophoblastic disease

Low-risk metastatic gestational trophoblastic disease is almost uniformly curable with chemotherapy if the diagnosis is correct. Recent clinical investigations have focused on reducing the toxicity and cost of chemotherapy. This article discusses the diagnosis and current management.     

Epidemiology of gestational trophoblastic disease

The epidemiology of gestational trophoblastic disease is not well understood. Methodologic problems with published reports limit the interpretation of incidence data, although the frequency of hydatidiform mole appears to be about one per 1000 pregnancies. No consistent temporal trends in rates of either hydatidiform mole or choriocarcinoma are evident. Hydatidiform mole appears to be caused by abnormal gametogenesis and fertilization. Age, ethnicity, and a history of hydatidiform mole appear to be important risk factors for hydatidiform mole. Age, ethnicity, a history of hydatidiform mole or fetal wastage, and ABO blood group interactions appear to be important risk factors for choriocarcinoma. Future studies should focus on the mechanisms by which these risk factors influence gametogenesis, fertilization, and malignant transformation of trophoblastic tissue.     

High-risk metastatic gestational trophoblastic disease

The clinical course of 61 patients with high-risk metastatic gestational trophoblastic disease was reviewed. Currently, 34 patients (56%) are alive and in complete remission. The survival rate after full-term pregnancy was significantly worse than after any other type of antecedent pregnancy. Analyzing survival by individual high-risk criteria revealed significantly improved survival for those patients with elevated beta-human chorionic gonadotropin titer alone when compared with all other high-risk criteria. Fifty-eight percent of patients (14 of 24) primarily treated with alternating-sequential therapy consisting of methotrexate and actinomycin-D experienced a complete remission. Of those patients primarily treated with methotrexate, actinomycin-D, and cyclophosphamide, 63% (20 of 32) achieved a complete remission. Treatment with second-line chemotherapy was largely unsuccessful. Aggressive early treatment is warranted in this group of patients, using multiagent chemotherapy. A search for newer more effective regimens should continue.     

Placental site trophoblastic tumor presenting as a friable cervical mass

PURPOSE OF INVESTIGATION: Placental site trophoblastic tumor (PSTT) is a rare variant of gestational trophoblastic neoplasia (GTN) and primarily composed of intermediate trophoblasts. In contrast to other forms of GTN, PSTT presents with only mildly elevated levels of beta-hCG and immunohistochemical staining of tissue samples is a helpful tool for diagnosis. CASE AND RESULTS: A 38-year-old gravida 3, parity 3 female presented to the emergency department after three weeks of abnormal vaginal bleeding. The uterus was mildly enlarged, midline, and mobile with minimal discomfort. A necrotic, friable mass was protruding through the cervical os and biopsies were obtained. The serum beta-hCG was 13 mIU/ml. Computed tomography revealed a mass within the endometrial cavity and cervix but no significant lymphatic adenopathy or metastasis. Immunohistochemical staining was positive for cytokeratin AE1/AE3, E-cadherin, human placental lactogen (hPL), and alpha inhibin. Surgery was considered curative. CONCLUSION: PSTT presenting as a friable cervical mass is uncommon. Biopsies of this mass lead to the correct diagnosis. Several immunohistochemical stains are suggested in the literature to evaluate for PSTT. Clinically, it is prudent for physicians to differentiate PSTT from other forms of GTN because of the poor response of PSTT to chemotherapy.     

Malignant potential of gestational trophoblastic disease at the extreme ages of reproductive life

The effect of maternal age on the incidence and significance of hydatidiform mole in 2202 patients studied at the Southeastern Regional Trophoblastic Disease Center during 1978 to 1982 is analyzed. Results are compared with a contemporary control group that comprised all types of pregnancy events. A significant increase (P less than .001) in the incidence of hydatidiform mole was seen in women 15 years of age or less and 40 years of age or more. A significant decrease (P less than .001) in the incidence of hydatidiform mole was seen in women in the 20 to 29-year age group. The greatest relative risk of hydatidiform mole occurred in women 50 years of age and older (relative risk = 519). The malignant sequelae rate from hydatidiform mole was 21.7% for the entire group. The relative risk of malignant gestational trophoblastic disease was lowest among patients 15 years of age and less (13.9%) and highest in patients 50 years of age and more (37.5%), but the differences were not significant (P greater than .05). The findings of the present study are compared with the previous literature and management recommendations are made.     

妊娠滋养细胞疾病超声诊断

经阴道超声检查对葡萄胎、侵蚀性葡萄胎和绒毛膜癌的诊断率可以达到90%～95%,但胎盘部位滋养细胞肿瘤超声缺乏特征性表现。临床病史对于超声诊断妊娠滋养细胞疾病(gestational trophoblastic disease,GTD)有重要意义。     

Late recurrence of gestational trophoblastic disease

Persistent normal human chorionic gonadotrophin (hCG) levels for a period of 1 year after treatment is considered to be a reliable criterion of complete and sustained remission in patients with gestational trophoblastic disease. This is because such patients rarely require further therapy. Two patients are presented who developed recurrent disease after being in remission for 18 and 21 months. One of the patients initially had metastatic disease in the lungs; the other had tumor in the lungs and brain. Both of the patients have remained clinically free of disease after retreatment; one patient for 31 months and the other patient for more than 4 years. The management of the patients is presented with an emphasis on the requirement for long-term surveillance. Possible mechanisms to account for the reactivation of disease after a prolonged latency period are considered.     

Recent advances in gestational trophoblastic disease

Recent advances have increased our understanding of gestational trophoblastic disease, and epidemiologic studies have demonstrated that there are important differences in risk factors for complete and partial mole. Complete moles are now increasingly being diagnosed in the first trimester, affecting their clinical presentation and pathologic characteristics. While important advances have been made in chemotherapy, it is now recognized that etoposide is associated with a risk of second tumors. Several studies have advanced understanding of the molecular biology of gestational trophoblastic disease, and this is important for the eventual development of new and innovative therapy.     

Current management of gestational trophoblastic disease

Gestational trophoblastic disease incorporates a spectrum of disorders ranging from benign to malignant subtypes. At one end, hCG level monitoring is all that is required, whereas, at the other, patients require combination chemotherapy regimens and surgery to cure the disease. The diagnosis can have profound effects on both the patient and her family and it is essential this is recognized and managed appropriately. Although rare, clinicians in non-specialist units are expected to inform patients of their diagnosis and explain the management steps prior to being referred to a specialized Trophoblastic centre and unfortunately, patients may be given inaccurate or incomplete information and use the Internet as their primary source of information. This article intends to explain the diagnosis itself (incidence, genetics, subtypes), and summarize the clinical presentation and management, whilst answering some of the most commonly encountered questions asked by affected patients.