RESUMO
No disponible
Assuntos
Humanos , Masculino , Feminino , Fator de Transcrição E2F4/análise , Fator de Transcrição E2F4 , Neoplasias Colorretais/diagnóstico , Diagnóstico Precoce , Alelos , DNA/análise , DNA/isolamento & purificação , RNA/análiseRESUMO
No disponible
Assuntos
Feminino , Humanos , Masculino , Proteína X Associada a bcl-2/administração & dosagem , Proteína X Associada a bcl-2 , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/radioterapia , Apoptose/genética , Cromossomos/genética , Proteína X Associada a bcl-2/deficiência , Proteína X Associada a bcl-2/metabolismo , Neoplasias Colorretais/patologia , Neoplasias Colorretais/terapia , Fenótipo , Apoptose/fisiologia , Cromossomos/classificaçãoAssuntos
Biomarcadores Tumorais/genética , Deleção Cromossômica , Cromossomos Humanos Par 19 , Neoplasias Colorretais Hereditárias sem Polipose/genética , Predisposição Genética para Doença , Proteína X Associada a bcl-2/genética , Adulto , Humanos , Instabilidade de Microssatélites , Pessoa de Meia-IdadeRESUMO
No disponible
Assuntos
Humanos , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais/genética , Mutação/genética , Marcadores Genéticos/genéticaAssuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Mutação em Linhagem Germinativa , Instabilidade de Microssatélites , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Adulto , Idade de Início , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Reparo de Erro de Pareamento de DNA/genética , DNA de Neoplasias/sangue , DNA de Neoplasias/genética , Humanos , Repetições de Microssatélites , Proteína 1 Homóloga a MutL , Proteínas MutLRESUMO
We describe a rare case of complete hydatidiform mole with twin live fetus (CHMTF) confirmed by histopathology, flow cytometry and polymerase chain reaction techniques. No malformations were observed, fetal karyotype was normal and ß-human chorionic gonadotropin levels were high (>100,000 IU/ml). The patient was informed of the risks and decided to continue with the pregnancy, but at week 15, she had to undergo hysterectomy due to uterine rupture. She subsequently developed persistent trophoblastic disease (PTD) with pulmonary metastases that required treatment with polychemotherapy. Patients with CHMTF should be informed of all known risks, including the considerable risk of PTD, which is similar to or, even higher than that associated with a singleton complete mole. The risk does not appear to be increased by continuing the pregnancy. Because so few series have been published, there is a lack of evidence-based clinical management guidelines. To our knowledge, this is the first report of uterine rupture in CHMTF.
Assuntos
Doença Trofoblástica Gestacional/patologia , Mola Hidatiforme/patologia , Gravidez de Gêmeos , Neoplasias Uterinas/patologia , Ruptura Uterina/cirurgia , Adulto , Gonadotropina Coriônica/sangue , Feminino , Humanos , Histerectomia/métodos , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/terapia , Repetições de Microssatélites/genética , Gravidez , Resultado do TratamentoRESUMO
OBJECTIVE: To describe an extremely rare case of a partial hydatidiform mole with a normal fetus. The etiology and clinical management of this entity are discussed. METHOD: Case report. RESULTS: We describe a rare case of partial mole and a living fetus of diploid karyotype and biparental origin confirmed by flow cytometry and PCR techniques. No malformations were observed, beta-hCG levels were high (>100,000 mIU/ml) and persistent trophoblastic disease did eventually occur. CONCLUSION: A suspected partial mole on ultrasound with increased beta-hCG and a sonographically normal living fetus of a diploid karyotype poses a dilemma for clinical management. Termination of pregnancy is not indicated if the fetus is normal; in fact, continuation to birth is possible in nearly 60% of cases with no increase in maternal risks when the patient is closely monitored after birth until beta-hCG is negative. In the case presented, however, a spontaneous abortion occurred at 21 weeks' gestation, possibly as a result of the amniocentesis.
