ABSTRACT
Genetic and epigenetic alterations in choroid plexus tumors, a rare neuroepithelial neoplasm most frequently detected in children, are poorly characterized. Epigenetic silencing associated with aberrant CpG island methylation is one mechanism leading to the loss of tumor suppressor functions in cancer cells. Using methylation-specific polymerase chain reaction, the methylation patterns of the genes CDH1 (E-cadherin), RARB (retinoic acid receptor, beta), and SFN (stratifin; 14-3-3sigma) were retrospectively investigated in eight choroid plexus tumors (five papillomas, two atypical papillomas, and one carcinoma), as well as in two normal cortexes obtained after autopsy from male individuals aged 6 months and 64 years. Among the six pediatric tumors, the mean age at diagnosis was 1.8 years old (range, 0.2-6) and the two adult tumors were detected in a 66-year-old man and a 45-year-old woman. A high frequency of hypermethylation was detected in CDH1 and SFN genes in tumoral and normal cortex tissues. Tumor-specific RARB hypermethylation was observed in four papillomas. Further studies are required to evaluate the role of aberrant methylation in choroid plexus tumor progression.
Subject(s)
Biomarkers, Tumor/genetics , Cadherins/genetics , Choroid Plexus Neoplasms/genetics , DNA Methylation , Exonucleases/genetics , Neoplasm Proteins/genetics , Receptors, Retinoic Acid/genetics , 14-3-3 Proteins , Aged , Antigens, CD , Carcinoma/genetics , Child , Child, Preschool , Choroid Plexus/metabolism , Exoribonucleases , Female , Humans , Infant , Male , Middle Aged , Papilloma/genetics , Retrospective StudiesABSTRACT
We present a case of a 56-year-old woman with abdominal pain, normal laboratorial exams, normal carcinoembryonary antigen (CEA) and abdominal tomography exam with tumor formation in hepatic region. A tumor lesion was identified in a surgery in the medial segment of the inferior vena cava. A surgical resection was done, respecting the security limits, and reconstruction of the inferior vein with polytetrafluoroethylene (PTFE) graft was performed. The histological examination showed differentiated leiomyossarcoma of the inferior vena cava. This report points to the necessity of differential diagnoses with leiomyossarcoma in the presence of abdominal mass, supra-mesocolic, and non-specific abdominal symptoms, since its pre-surgical diagnoses occurs in only 5 percent to 10 percent of the cases.
ABSTRACT
Embora näo freqüentemente, associaçäo entre psoríase vulgar e nefropatia membranosa tem sido relatada, sendo um mecanismo auto-imune comum sugerido como a origem desta associaçäo. Apresetam-se os casos de 2 pacientes portadores de psoríase vulgar que desenvolveram nefropatia membranosa durante o curso da dermatose e que, apesar das terapêuticas utilizadas, evoluiram para insuficiência renal crönica terminal. Estes säo, provavelmente, os primeiros casos descritos desta associçäo no país (au)