RESUMO
Noonan syndrome-related myeloproliferative disorder (NS/MPD) and juvenile myelomonocytic leukemia (JMML) are rare MPDs that occur in young children. We herein report a case of NS/MPD with neonatal onset. The patient had a characteristic appearance and high monocyte count in the peripheral blood and bone marrow. Genetic testing showed the E139D mutation in PTPN11 ; however, the patient did not meet all the diagnostic criteria for JMML, and we thus diagnosed him with NS/MPD. Eight other cases of NS/MPD with neonatal onset are also summarized. The initial presentation varied, and the prognosis was considered poor compared with previous reports of NS/MPD.
Assuntos
Leucemia Mielomonocítica Juvenil , Transtornos Mieloproliferativos , Síndrome de Noonan , Humanos , Recém-Nascido , Masculino , Leucemia Mielomonocítica Juvenil/complicações , Leucemia Mielomonocítica Juvenil/diagnóstico , Leucemia Mielomonocítica Juvenil/genética , Mutação , Transtornos Mieloproliferativos/complicações , Transtornos Mieloproliferativos/genética , Síndrome de Noonan/complicações , Síndrome de Noonan/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genéticaRESUMO
We describe the case of a 15-year-old boy with a history of Fontan operation and multiple intrahepatic tumors. Computed tomography showed multiple hepatic nodules with arterial enhancement. Because hepatocellular carcinoma (HCC) was not detected on biopsies and tumor markers were normal, progress was monitored on imaging. One hepatic tumor increased greatly in size during follow up. At 15 years of age, tumor markers rose rapidly, and he had upper abdominal swelling. Therefore, transarterial embolization (TAE) was performed for the largest tumor, suspected to be a HCC due to cardiac cirrhosis. This tumor had not increased at follow up 4 months later. The patient died from hepatic failure at the age of 17 years, and HCC was diagnosed at autopsy. Although pediatric HCC is rare, its incidence is likely to increase. TAE, with or without anticancer agents, is a therapeutic option for unresectable pediatric HCC, as it is for adult HCC.
Assuntos
Carcinoma Hepatocelular/terapia , Embolização Terapêutica/métodos , Cirrose Hepática/terapia , Neoplasias Hepáticas/terapia , Adolescente , Angiografia Digital , Biomarcadores Tumorais , Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/patologia , Evolução Fatal , Humanos , Cirrose Hepática/diagnóstico por imagem , Cirrose Hepática/patologia , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Masculino , Tomografia Computadorizada por Raios XAssuntos
Doenças do Desenvolvimento Ósseo/genética , Anormalidades Craniofaciais/genética , DNA/genética , Hiperostose/genética , Hipertelorismo/genética , Mosaicismo , Mutação , Proteínas de Transporte de Fosfato/genética , Doenças do Desenvolvimento Ósseo/metabolismo , Anormalidades Craniofaciais/metabolismo , Feminino , Humanos , Hiperostose/metabolismo , Hipertelorismo/metabolismo , Lactente , Linhagem , Proteínas de Transporte de Fosfato/metabolismoRESUMO
Fetomaternal hemorrhage induced by intraplacental choriocarcinoma is considered to be extremely rare. We herein describe a neonate with severe anemia caused by intraplacental choriocarcinoma that was histopathologically identified after birth. Furthermore, we reviewed three other such cases in Japan. As a result, the incidence of intraplacental choriocarcinoma may be higher than previously estimated. Therefore, we suggest that the placenta should be examined in any suspected cases of fetomaternal hemorrhage.