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Bi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia
Author(s) -
Massaro Stephanie A.,
Bajaj Renu,
Pashankar Farzana D.,
Ornstein Deborah,
Gallagher Patrick G.,
Krause Diane S.,
Li Peining
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.23156
Subject(s) - acute megakaryoblastic leukemia , trisomy , medicine , cancer research , chromosomal translocation , fluorescence in situ hybridization , comparative genomic hybridization , leukemia , genetics , biology , gene , chromosome , myeloid leukemia
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. Pediatr Blood Cancer 2011; 57: 516–519. © 2011 Wiley‐Liss, Inc.