50. Loss of TP53 in a pediatric patient with Down syndrome, B-lymphoblastic leukemia, and the t(8;14)(q11.2q32) CEBPD/IGH translocation

B-acute lymphoblastic leukemia (B-ALL) in patients with Down syndrome (DS) has a worse prognosis than non-DS B-ALL. However, associated cytogenetic alterations may alter the prognosis. Here we discuss a 13-year-old female with DS presenting with leg pain, fevers, white blood cell count 12.8 k/ul, hemoglobin 7.7 g/dL, platelets 31 k/ul, and 60.9% blasts on differential. Flow cytometry identified B-lymphoblasts (positive for CD19, cytoCD79a, cytoCD22, CD34, CD10, TdT, and CD45 (dim)) and bone marrow biopsy demonstrated sheets of B-lymphoblasts.

Source: Cancer Genetics and Cytogenetics - March 31, 2019 Category: Genetics & Stem Cells Authors: Mary Ann Thompson, Adam Seegmiller, Christine Smith, Sara Zarnegar-Lumley, Kathleen W. Montgomery, Ferrin C. Wheeler, Ashwini Yenamandra Source Type: research