RESUMO
Zinc-finger protein 384 (ZNF384) gene fusions with EP300 have recently been described as a recurrent fusion in B-cell acute lymphoblastic leukemia (B-ALL) with a good response to conventional chemotherapy, suggesting a favorable prognosis. Herein, we report on a female patient aged 12 years with uninformative conventional chromosome and B-ALL panel fluorescence in situ hybridization studies with chromosomal microarray showing multiple copy number gains, including relative gains in the ZNF384 (12p13.31) and EP300 (22q13.2) gene regions, suggesting a cryptic EP300/ZNF384 fusion. Ultimately, a next-generation sequencing assay, mate pair sequencing, was utilized to confirm EP300/ZNF384 fusion in this B-ALL clone, which may confer a favorable overall prognosis and potential targeted therapy.
Assuntos
Proteínas de Fusão Oncogênica , Leucemia-Linfoma Linfoblástico de Células Precursoras , Criança , Cromossomos , Proteína p300 Associada a E1A , Feminino , Fusão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Transativadores/genética , Fatores de TranscriçãoRESUMO
Chronic transfusion therapy with the goal of maintaining a hemoglobin (Hb) S <30% is the primary recommended treatment for children with sickle cell anemia and a history of overt stroke or abnormal transcranial Doppler examination. We report chronic hypersplenism as a cause of poor HbS% control in 3 children on chronic transfusion therapy for stroke prevention. Splenectomy resulted in a 39.77% (95% confidence interval, 34.3-45.3, P<0.0001) mean reduction in HbS% with no perioperative or infectious complications suggesting the need for additional research into splenectomy as a therapeutic option for select high-risk children to optimize transfusion therapy for stroke prevention.
Assuntos
Anemia Falciforme , Transfusão de Sangue , Hemoglobina Falciforme/metabolismo , Esplenectomia , Acidente Vascular Cerebral/prevenção & controle , Anemia Falciforme/sangue , Anemia Falciforme/complicações , Anemia Falciforme/terapia , Criança , Feminino , Humanos , Masculino , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/etiologiaRESUMO
BACKGROUND: Pediatric neuroendocrine tumors (NETs) are rare tumors. The purpose of this study is to report the clinical characteristics and outcomes of pediatric patients treated for NET at a single institution. PROCEDURE: A retrospective record review. RESULTS: There were 33 evaluable patients with median age of 17.9 years (range, 9.9 to 21.9 y) and predominantly females (58%). There were 17 patients with well-differentiated appendiceal NET, whereas 16 were nonappendiceal. Most common nonappendiceal sites were unknown primary (N=6) and pancreas (N=4). Majority of tumors were low grade (N=24, 73%) and small (T1, N=22, 67%). Nonappendiceal tumors were more likely to be larger or high-grade tumors (5/16, 31%), or with metastasis. All appendiceal NET patients underwent curative surgery. All patients who experienced treatment failure had nonappendiceal NET, despite prior chemotherapy in 8 of 9 patients. The 5-year overall survival rates for patients with appendiceal and nonappendiceal NET were 100% and 66% (95% CI, 45%-95%; P=0.006); and 5-year relapse-free survival rate for patients with appendiceal and nonappendiceal NET were 100% and 41% (95% CI, 22%-75%; P=0.002). CONCLUSIONS: Well-differentiated appendiceal tumors were the most common pediatric NET and have an excellent prognosis. Better therapies are needed for patients with nonappendiceal NET.
