RESUMO
Hepatoblastoma accounts for the vast majority of malignant primary liver tumors in infancy. In contrast, rhabdoid tumors arising in the liver are extremely rare, but they can share clinical and histologic features with hepatoblastoma and can create diagnostic confusion, especially when one is dealing with small biopsies. In this case report we demonstrate that immunohistochemical and molecular techniques can identify the characteristic loss of INI1 and facilitate making the correct diagnosis of primary hepatic malignant rhabdoid tumor. Important similarities and differences between hepatoblastoma and rhabdoid tumors are reviewed, and suggestions are offered to help distinguish these 2 tumor types.
Assuntos
Hepatoblastoma/patologia , Neoplasias Hepáticas/secundário , Tumor Rabdoide/secundário , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Proteínas Cromossômicas não Histona/genética , Proteínas Cromossômicas não Histona/metabolismo , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Diagnóstico Diferencial , Feminino , Hepatoblastoma/metabolismo , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lactente , Neoplasias Hepáticas/metabolismo , Neoplasias Pulmonares/secundário , Masculino , Neoplasias Peritoneais/genética , Neoplasias Peritoneais/metabolismo , Neoplasias Peritoneais/secundário , Gravidez , Nascimento Prematuro , Tumor Rabdoide/genética , Tumor Rabdoide/metabolismo , Proteína SMARCB1 , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Translocação GenéticaRESUMO
BACKGROUND: IL-5 is a cytokine critically involved in regulating several aspects of eosinophils including their production, activation, and tissue recruitment. As such, IL-5 may be involved in the pathogenesis of hypereosinophilic syndromes, a group of poorly treated diverse disorders characterized by sustained peripheral blood and/or tissue eosinophilia. OBJECTIVE: We aimed to assess the safety and efficacy of a humanized blocking monoclonal antibody against IL-5 (mepolizumab) in patients with several forms of hyper-eosinophilic syndromes. METHODS: We performed an open-label trial of anti-IL-5 in which 3 intravenous doses (10 mg/kg, maximum 750 mg) were administered at 4-week intervals to 4 patients with hypereosinophilic syndromes (defined by peripheral blood and/or tissue eosinophilia). The effects of treatment on safety, eosinophil levels (in peripheral blood and/or diseased tissue), pulmonary function, and quality of life were measured over a 28-week period. RESULTS: Anti-IL-5 was well tolerated in all patients and lowered peripheral blood eosinophil counts despite ongoing systemic glucocorticoid therapy. The decline in circulating eosinophil counts was sustained for at least 12 weeks after the last dose of anti-IL-5. In addition, anti-IL-5 improved clinical and quality of life measurements. In one patient with striking tissue eosinophilia (eosinophilic esophagitis), anti-IL-5 resulted in a 10-fold reduction in tissue eosinophil levels. CONCLUSIONS: These results suggest that anti-IL-5 is safe, effective in lowering eosinophil levels, and has potential glucocorticoid-sparing effects in patients with a variety of hyper-eosinophilic syndromes. As such, anti-IL-5 may have significant therapeutic potential for hypereosinophilic syndromes.