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

[1]  K. Akashi,et al.  Ott1(Rbm15) has pleiotropic roles in hematopoietic development , 2007, Proceedings of the National Academy of Sciences.

[2]  C. Niu,et al.  Rbm15 Modulates Notch-Induced Transcriptional Activation and Affects Myeloid Differentiation , 2007, Molecular and Cellular Biology.

[3]  Y. Ravindranath,et al.  Acute megakaryoblastic leukemia with t(17;22)(q21;q13) and liver dysfunction. , 2004, Cancer genetics and cytogenetics.

[4]  R. Berger,et al.  A novel real-time RT-PCR assay for quantification of OTT-MAL fusion transcript reliable for diagnosis of t(1;22) and minimal residual disease (MRD) detection , 2003, Leukemia.

[5]  M. L. Beau,et al.  Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome , 2002, Nature Genetics.

[6]  S. Jhanwar,et al.  Frequent gain of chromosome 19 in megakaryoblastic leukemias detected by comparative genomic hybridization , 2001, Genes, chromosomes & cancer.

[7]  Dean Nizetic,et al.  Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia , 2001, Nature Genetics.

[8]  Nicole Dastugue,et al.  Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[9]  E. Estey,et al.  Low and maximally phosphorylated levels of the retinoblastoma protein confer poor prognosis in newly diagnosed acute myelogenous leukemia: a prospective study. , 1998, Clinical cancer research : an official journal of the American Association for Cancer Research.

[10]  M. Volm,et al.  Expression of the retinoblastoma tumor suppressor gene (RB-1) in acute leukemia. , 1998, Leukemia & lymphoma.

[11]  E. Zabarovsky,et al.  13q deletions in lymphoid malignancies. , 1995, Blood.

[12]  A. Zipursky,et al.  Myelodysplasia and acute megakaryoblastic leukemia in Down's syndrome. , 1994, Leukemia research.

[13]  E. Estey,et al.  Levels of retinoblastoma protein expression in newly diagnosed acute myelogenous leukemia. , 1994, Blood.

[14]  E. Estey,et al.  Clinical implications of decreased retinoblastoma protein expression in acute myelogenous leukemia. , 1992, Cancer research.