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Pediatr Blood Cancer. 2011 Sep;57(3):516-9. doi: 10.1002/pbc.23156. Epub 2011 Apr 29.

Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia.

Author information

1
Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA. stephanie.massaro@yale.edu

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.

PMID:
21538823
PMCID:
PMC4517576
DOI:
10.1002/pbc.23156
[Indexed for MEDLINE]
Free PMC Article

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