RESUMO
Extraneural metastasis is extremely rare in pediatric patients with high-grade glioma and carries a grim prognosis. Detection of metastases at initial presentation is even rarer. A 15-year-old adolescent girl presented with paraplegia, urinary retention, and a constellation of systemic symptoms. Imaging showed a fourth ventricular lesion, innumerable intradural lesions, leptomeningeal seeding throughout the neuraxis, and numerous osteoblastic lesions involving the spine, ribs, sternum, pelvis, humerus, and femurs. Pathology confirmed metastatic diffuse midline glioma, H3K27M-mutant. Our patient died 2 weeks after initial presentation. Further work is needed to develop effective treatment strategies for these high-risk patients.
Assuntos
Neoplasias Ósseas/secundário , Neoplasias Encefálicas/patologia , Glioma/patologia , Histonas/genética , Mutação , Adolescente , Neoplasias Ósseas/genética , Neoplasias Encefálicas/genética , Evolução Fatal , Feminino , Glioma/genética , HumanosRESUMO
Acute myeloid leukemia (AML) associated with Down syndrome (DS-AML) is a unique entity of AML with superior treatment response and overall survival compared with children with non-DS-AML. Despite good outcomes in DS-AML, those who relapse or have refractory disease have poor survival. Successful treatment of these patients is challenged by increased incidence of treatment-related toxicities often encountered with high-dose chemotherapy. Here we report the experience of epigenetic modifying agents (decitabine and vorinostat) followed by fludarabine, cytarabine, and granulocyte colony stimulating growth factor for a child with refractory DS-AML. This combination was well tolerated and resulted in a brief clinical response.