Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia.
Publication/Presentation Date
9-1-2011
Abstract
Oligonucleotide array comparative genomic hybridization, karyotype and fluorescence in situ hybridization analyses were employed to delineate the cytogenetic abnormalities in a case of pediatric acute megakaryoblastic leukemia. Here we present a unique genetic profile that includes bi-allelic deletions within 13q14, where the retinoblastoma tumor suppressor gene (RB1) resides, as well as isolated trisomy 21 without a concomitant mutation in the hematopoietic transcription factor GATA1s and translocation (17;22), that does not involve the megakaryoblastic leukemia 1 (MKL1) gene located on chromosome 22. Alteration of the RB1 gene is most likely the critical leukemogenic event in this patient.
Volume
57
Issue
3
First Page
516
Last Page
519
ISSN
1545-5017
Published In/Presented At
Massaro, S. A., Bajaj, R., Pashankar, F. D., Ornstein, D., Gallagher, P. G., Krause, D. S., & Li, P. (2011). Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia. Pediatric blood & cancer, 57(3), 516–519. https://doi.org/10.1002/pbc.23156
Disciplines
Medicine and Health Sciences
PubMedID
21538823
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article