RESUMEN
Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood. It often represents a manifestation of a hereditary tumor predisposition syndrome (DICER1 syndrome). Because of its malignant potential, surgical resection of cystic lung lesions is recommended in germline DICER1 mutation carriers. We present a case of a 3-year-old male child with type III PPB successfully managed with ifosfamide, vincristine, actinomycin-D, and doxorubicin (IVADo) chemotherapy and surgery. A heterozygous germline pR688X mutation of DICER1 gene was demonstrated. Six years after primary diagnosis, several small lung cysts remained stable without further therapy. The management of residual asymptomatic lung cysts represents a clinical challenge in these patients.
Asunto(s)
ARN Helicasas DEAD-box/genética , Blastoma Pulmonar/genética , Ribonucleasa III/genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Preescolar , Quistes/patología , Dactinomicina/administración & dosificación , Doxorrubicina/administración & dosificación , Mutación de Línea Germinal , Heterocigoto , Humanos , Ifosfamida/administración & dosificación , Enfermedades Pulmonares/patología , Masculino , Blastoma Pulmonar/tratamiento farmacológico , Blastoma Pulmonar/patología , Vincristina/administración & dosificaciónRESUMEN
We present the case of a patient under study due to ascites in which a mass located on the gastric wall was observed during ultrasonography. Further studies (upper endoscopy and computed tomography) confirmed this finding. After an ultrasound-guided percutaneous biopsy, diagnosis of gastric schwannoma was made as intense S-100 expression was found. Surgery was rejected due to the bad clinical situation of the patient and because the mass was an asymptomatic benign tumor.
Asunto(s)
Neurilemoma/diagnóstico por imagen , Neoplasias Gástricas/diagnóstico por imagen , Anciano de 80 o más Años , Tratamiento Conservador , Femenino , Gastroscopía , Humanos , Hallazgos Incidentales , UltrasonografíaRESUMEN
We present the case of a young man with a hepatic mass in which ultrasound gives great and immediate support for diferential diagnosis.
Asunto(s)
Carcinoma Hepatocelular/diagnóstico por imagen , Neoplasias Hepáticas/diagnóstico por imagen , Abdomen/diagnóstico por imagen , Adolescente , Carcinoma Hepatocelular/tratamiento farmacológico , Humanos , Neoplasias Hepáticas/tratamiento farmacológico , Masculino , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
Desmoplastic spindle cell tumor of the liver is a recently described and extremely unusual neoplasm that affects children and young adults. We report 1 case in a 33-year-old man. The patient had abdominal pain and dyspepsia. Abdominal examination showed that the liver was enlarged and palpable until umbilical region. Laboratory studies demonstrated positive serologic markers to hepatitis B virus. All other analytical studies were irrelevant. Computed tomography revealed a large tumor mass in left hepatic lobe showing heterogeneous densities, with hyperdense peripheral areas, as multiple nodular calcifications of less than 1 cm. In the central part of the mass, a big hypodense area was observed. There was no evidence of extrahepatic disease. Grossly, the tumor was well circumscribed with multiple nodular calcifications. The tumor was characterized by the presence of cohesive nests of bland spindle cells arranged in short fascicles and surrounded by desmoplastic stroma, intermixed with epithelioid cells. Mitotic activity was very low. Extensive osteoid formation was seen inside the cell nests. The tumor cells showed cytoplasmic reactivity for vimentin and pan-cytokeratin. The cells of desmoplastic stroma were immunoreactive for actin. The biologic behavior is still uncertain with only 5 published cases, but current information suggests that they are low-grade tumors with an indolent course. The clinical and morphologic features of this tumor are very similar to those of tumors previously reported as "nested stromal-epithelial tumor of liver" and "ossifying stromal-epithelial tumor of liver." We describe the histologic, immunohistochemical, and molecular genetic features of a case of desmoplastic spindle cell tumor of the liver and review the literature.
Asunto(s)
Neoplasias Hepáticas/patología , Hígado/patología , Sarcoma/patología , Adulto , Células Epiteliales/patología , Humanos , Inmunohistoquímica , Hígado/diagnóstico por imagen , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/genética , Masculino , Sarcoma/diagnóstico por imagen , Sarcoma/genética , Tomografía Computarizada por Rayos XAsunto(s)
Aorta Abdominal/diagnóstico por imagen , Aortitis/complicaciones , Enfermedad de Erdheim-Chester/complicaciones , Aortitis/diagnóstico , Biopsia , Diagnóstico Diferencial , Enfermedad de Erdheim-Chester/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana EdadRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Erdheim-Chester/diagnóstico , Fibrosis Retroperitoneal/complicaciones , Histiocitoma Fibroso Maligno/diagnósticoAsunto(s)
Diafragma/patología , Neoplasias Cardíacas/diagnóstico , Rabdomiosarcoma/diagnóstico , Anciano , Diagnóstico Diferencial , Diagnóstico por Imagen , Electrocardiografía , Resultado Fatal , Neoplasias Cardíacas/patología , Humanos , Masculino , Invasividad Neoplásica , Rabdomiosarcoma/patologíaRESUMEN
No disponible