RESUMEN
Neuroepithelial tumors with fusion of PLAGL1 or amplification of PLAGL1/PLAGL2 have recently been described often with ependymoma-like or embryonal histology respectively. To further evaluate emerging entities with PLAG-family genetic alterations, the histologic, molecular, clinical, and imaging features are described for 8 clinical cases encountered at St. Jude (EWSR1-PLAGL1 fusion n = 6; PLAGL1 amplification n = 1; PLAGL2 amplification n = 1). A histologic feature observed on initial resection in a subset (4/6) of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement was the presence of concurrent ependymal and ganglionic differentiation. This ranged from prominent clusters of ganglion cells within ependymoma/subependymoma-like areas, to interspersed ganglion cells of low to moderate frequency among otherwise ependymal-like histology, or focal areas with a ganglion cell component. When present, the combination of ependymal-like and ganglionic features within a supratentorial neuroepithelial tumor may raise consideration for an EWSR1-PLAGL1 fusion, and prompt initiation of appropriate molecular testing such as RNA sequencing and methylation profiling. One of the EWSR1-PLAGL1 fusion cases showed subclonal INI1 loss in a region containing small clusters of rhabdoid/embryonal cells, and developed a prominent ganglion cell component on recurrence. As such, EWSR1-PLAGL1 neuroepithelial tumors are a tumor type in which acquired inactivation of SMARCB1 and development of AT/RT features may occur and lead to clinical progression. In contrast, the PLAGL2 and PLAGL1 amplified cases showed either embryonal histology or contained an embryonal component with a significant degree of desmin staining, which could also serve to raise consideration for a PLAG entity when present. Continued compilation of associated clinical data and histopathologic findings will be critical for understanding emerging entities with PLAG-family genetic alterations.
Asunto(s)
Proteína EWS de Unión a ARN , Neoplasias Supratentoriales , Factores de Transcripción , Humanos , Neoplasias Supratentoriales/genética , Neoplasias Supratentoriales/patología , Femenino , Proteína EWS de Unión a ARN/genética , Masculino , Factores de Transcripción/genética , Niño , Neoplasias Neuroepiteliales/genética , Neoplasias Neuroepiteliales/patología , Preescolar , Adolescente , Adulto , Proteínas de Unión al ADN/genética , Adulto Joven , Diferenciación Celular , Proteínas de Fusión Oncogénica/genética , Epéndimo/patología , Reordenamiento Génico/genética , Proteínas Cromosómicas no Histona/genéticaRESUMEN
CASE: We report a case in the United States of a 12-year-old girl with multidrug-resistant tuberculous (MDR-TB) osteomyelitis of the hand managed with surgical debridement and second-line anti-TB therapy. The disease course was complicated by dissemination and multifocal progression. CONCLUSION: Despite early intervention, multidrug resistance makes TB treatment challenging and facilitated progression to disseminated disease in this case. We review the difficulties in diagnosis and treatment of pediatric MDR-TB.
Asunto(s)
Osteomielitis , Tuberculosis Resistente a Múltiples Medicamentos , Tuberculosis Osteoarticular , Femenino , Humanos , Niño , Estados Unidos , Antituberculosos/uso terapéutico , Tuberculosis Resistente a Múltiples Medicamentos/tratamiento farmacológico , Tuberculosis Resistente a Múltiples Medicamentos/diagnóstico , Tuberculosis Osteoarticular/diagnóstico por imagen , Tuberculosis Osteoarticular/tratamiento farmacológico , Extremidad Superior , Osteomielitis/diagnóstico por imagen , Osteomielitis/tratamiento farmacológicoRESUMEN
Vaginoplasty with colon is a common technique for vaginal replacement in patients with cloaca. Malignancy in the neovagina is a rare outcome and typically presents decades after reconstruction. We present a case of an adolescent female with history of cloaca, ulcerative colitis, and high-grade dysplasia of the sigmoid neovagina.