Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia.

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.

Splenectomy to Optimize Hemoglobin S Control in Children With Sickle Cell Anemia on Chronic Transfusion Therapy for Stroke Prevention.

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.

A Comparison Between Appendiceal and Nonappendiceal Neuroendocrine Tumors in Children and Young Adults: A Single-institution Experience.

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.