O papel da ultrassonografia na doença trofoblástica gestacional / The role of ultrasonography in gestational trophoblastic disease

A doença trofoblástica gestacional (DTG) agrupa um conjunto de anomalias do desenvolvimento trofoblástico, que incluem formas clínicas benignas como a mola hidatiforme completa e parcial, o nódulo do sítio placentário atípico e o sítio trofoblástico exagerado, e malignas, caracterizando a neoplasia trofoblástica gestacional (NTG). De modo geral, seu diagnóstico precoce antecipa complicações clínicas que podem estar associadas a near miss obstétrico. Diante da suspeição clínica, é a ultrassonografia (US) precoce o exame de escolha pa ra o diagnóstico, associado à dosagem sérica de gonadotrofina coriônica humana, capaz de minimizar a ocorrência de complicações clínicas associadas à gravidez molar. Nos casos de NTG, é a US também de grande valia para estadiamento, avaliação de prognóstico e acompanhamento da mulher tratada para DTG. Este estudo faz uma revisão sobre o papel da US na DTG, sendo importante para familiarizar os tocoginecologistas com essa doença e salientar o papel da US consoante as melhores práticas clínicas.(AU)

Gestational trophoblastic disease (GTD) includes a set of trophoblastic developmental anomalies, which include benign forms such as complete and partial hydatidiform mole, atypical placental site nodule and exaggerated trophoblastic site, and malignant forms, characterizing gestational trophoblastic neoplasia (GTN). In general, its early diagnosis anticipates clinical complications that could be associated with obstetric near miss. In view of clinical suspicion, early ultrasonography (US) and serum levels of human chorionic gonadotropin are the best diagnostic screening techniques, able to minimizing the occurrence of medical complications associated with molar pregnancy. In cases of GTN, US is also of great value for staging, assessment of prognosis and follow-up of women treated for GTN. This study reviews the role of US in GTD, being important to familiarize tocogynecologists with this disease and highlight the role of US according to best clinical practices to minimize the morbidity of these patients and maximize the remission rates of this disease.(AU)

Metastatic Choriocarcinoma Masquerading as a Congenital Glabellar Hemangioma.

Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon. The initial clinical impression of infantile hemangioma led to an initial treatment with propranolol. However, the mass continued to enlarge and a biopsy was obtained. Histology revealed a high-grade, poorly differentiated carcinoma. A robust immunohistochemical battery demonstrated tumor reactivity with Glut-1, GATA3, Glypican-3, CAM5.2, and ß-hCG establishing the diagnosis of metastatic choriocarcinoma. The diagnosis was further supported by the elevated serum ß-hCG. In addition to the glabellar mass, imaging demonstrated tumor foci in the liver and lung. Clinical investigation of the mother revealed no evidence of disease.

[Infantile and maternal choriocarcinoma]. / Choriocarcinome infantile et maternel.

Infantile or congenital choriocarcinoma is a very uncommon complication of gestational choriocarcinoma. We report such a case with fatal outcome in a 3-week-old newborn, admitted for a hemorrhagic syndrome. Lungs, liver and brain masses were discovered and suggested an angiomatous process. The diagnosis was made later on gingival biopsy with necropsic confirmation. The mother's B-HCG level was elevated. She had asymptomatic pulmonary nodules and a uterine mass. This case report highlights characteristic but non specific clinical findings leading to the diagnosis. Chemotherapy must be undertaken as soon as possible to be effective. It is also necessary to assay maternal serum B-HCG when infantile choriocarcinoma is disclosed.

Infantile choriocarcinoma: a case report with MRI, angiography and bone scintigraphy.

Infantile and maternal choriocarcinoma is a very rare disease. We report a case with the characteristic clinical features of infantile choriocarcinoma: developing anemia, hemorrhagic liver tumors, rapid progression to death and maternal choriocarcinoma. Bone scintigraphy showed increased uptake by the liver tumors. In this case there were two possible primary sites: the placenta of this pregnancy and a hydatidiform mole that had been present 2 years previously.

Simultaneous choriocarcinoma in mother and newborn infant.

A male infant, born following an uncomplicated pregnancy, was severely anaemic at birth following significant foeto-maternal haemorrhage. At three weeks of age a tumour was found in the liver with evidence of metastatic disease in the lungs. The infant died before treatment could be started. Postmortem revealed choriocarcinoma which led to subsequent diagnosis in the mother who also had pulmonary metastases. The mother has been successfully treated. The case is described in detail and followed by a discussion and a literature review of reported cases of simultaneous choriocarcinoma in infant and mother.

Neonatal choriocarcinoma of liver.

Neonatal choriocarcinoma associated with a seemingly normal gestation is rare. A total of 20 cases of either primary or metastatic choriocarcinoma in infancy have been reported until 1992. We report an additional case of a huge choriocarcinoma of the liver in a 2-month-old boy, who died of tumor hemorrhage. This baby was born to a 19-year-old unmarried mother. The placenta was thought to be normal and was not examined histologically. The liver mass was first noted 2 weeks after birth, and he was admitted because of poor feeding and pallor. Before any therapy was instituted, he died of massive tumor bleeding. Autopsy revealed a huge hemorrhagic tumor mass with massive necrosis in the left lobe of the liver. Several nodular metastases were found only in the lung. The remainder was unremarkable except for bilateral cleft lip and palate. It is presumed that the choriocarcinoma in the liver could be either a primary tumor in the absence of any primary focus in the mother or the infant or a metastatic lesion from an occult choriocarcinoma of the placenta.

Infantile choriocarcinoma. Re-examination of a potentially curable entity.

Choriocarcinoma presenting in an infant or neonate is a rare entity that in the past has been uniformly fatal. The authors present the first reported case of choriocarcinoma successfully treated in a 3-week-old infant. Choriocarcinoma was not suspected in this case until pathologic examination revealed the diagnosis. In retrospect, however, the case fits well into the classic "infantile choriocarcinoma syndrome" initially described by Witzleben in 1968. Review of additional cases reported since the initial description validates Witzleben's initial observations and also indicates that the original definition should be broadened to include other significant presentations of the disease not initially appreciated, specifically anemic infants with central nervous system symptoms as well as newborns and older children. The importance of making a correct and rapid diagnosis is emphasized by the successful outcome in this case where aggressive surgery and subsequent chemotherapy have been curative. Serum beta-human chorionic gonadotropin (beta-HCG) levels have been uniformly positive, providing easy confirmation of the diagnosis. Because the mother can also be affected, an appropriate diagnosis of the infant may also lead to more rapid diagnosis and treatment of the mother.

Hepatic choriocarcinoma in a neonate: MR appearance.

We present the MR findings of hepatic choriocarcinoma in a 2-week-old infant. Two masses of heterogeneous signal intensity were evident; one was an extensive mass on the left side of the liver and the other was a "daughter" nodule in the right lobe. Peripheral portions of the masses were hyperintense on T1-weighted imaging (T1WI) and T2-weighted imaging (T2WI) suggesting subacute hemorrhage. Central portions of the masses were hypointense on T1WI and bright on T2WI. T1-weighted postgadolinium imaging showed peripheral enhancement of both tumor nodules. The infant's mother had normal serum beta-human chorionic gonadotropin levels and pelvic CT.

Neonatal intracranial choriocarcinoma.

A 1-month-old infant died from extensive intracerebral hemorrhage due to a metastatic choriocarcinoma to the brain that presumably originated in the placenta. The clinical course was characterized by hyperbilirubinemia, repeated episodes of seizures, and intracranial hemorrhage. A computed tomographic scan revealed a large vascular mass in the left parieto-occipital region and a small lesion in the left frontal lobe. The placenta was expelled during the delivery and was not examined. In view of the high level of maternal human chorionic gonadotropic hormone and the autopsy finding of metastasis, we presumed that the mass was a metastatic choriocarcinoma that had originated in the maternal placenta. To our knowledge, only one previous instance of this phenomenon has been reported.

The epidemiology of testicular cancer in upstate New York.

In a study of 250 cases of cancer of the testis and of neighborhood- and age-matched controls in upstate New York in 1977-1980, the authors found that risk was enhanced by possession of a number of traits associated with exposure of the testis to heat; occupational exposures to fertilizers, phenols, and fumes or smoke; and trauma to the testis. Risk was also increased for characteristics related to congenital and developmental aberrancies and testis-related abnormalities, e.g., low sperm count, fertility problems, atrophic testis, and cryptorchidism. Several of these risk factors were statistically significant in a multiple regression model that adjusted for all other significant traits, age, and education.

Infantile choriocarcinoma with cutaneous tumors. An additional case and review of the literature.

Choriocarcinoma is a malignant growth of trophoblastic cells characterized by the secretion of human chorionic gonadotropin. Primary choriocarcinoma arising in the placenta during a seemingly normal gestation is rare. Very few choriocarcinomas occurring simultaneously in mother and child have been reported so far. We describe an additional case of placental choriocarcinoma metastasizing to the newborn and showing many different cutaneous tumors. The primary tumor was found in the placenta. In the newborn, diagnosis was performed by skin biopsy only a few days after birth (by optic and electron microscopy). Immunohistochemical localization of human chorionic gonadotropin was performed by the immunoperoxidase technic with the use of monoclonal antibodies. This report describes an additional case and summarizes previously reported cases of placental choriocarcinoma metastasizing to the infant, as well as cases of skin metastases from malignant gestational trophoblastic disease.