Novel variant form of t(11;22)(q23;q13)/MLL-EP300 fusion transcript in the evolution of an acute myeloid leukemia with myelodysplasia-related changes

Duhoux, François; Wilde, Sigrid De; Ameye, Geneviève; Bahloula, Khadija; Medves, Sandrine; Légé, Geoffrey; Libouton, Jeanne-Marie; Demoulin, Jean‐Baptiste; Poirel, Hélène

doi:10.1016/j.leukres.2010.09.024

Cited by 6 publications

(6 citation statements)

References 5 publications

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“…Currently there are only three reported cases in the literature with t(11;22)(q23;q13), unlike our case all having secondary acute myeloid leukemia with prior therapy of topoisomerase II inhibitor (table 1). Moreover, rearrangement of the MLL gene and MLL-EP300 fusion gene were demonstrated in those three cases (Ida et al, 1997;Ohnishi et al, 2008;Duhoux et al, 2011). The clinical presentation of our case is quit different from these three cases.…”

Section: Commentscontrasting

confidence: 48%

A case of Acute Lymphoblastic Leukemia with rare t(11;22)(q23;q13)

Kremer¹,

Mohamed²

2012

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Section: Commentscontrasting

confidence: 48%

A case of Acute Lymphoblastic Leukemia with rare t(11;22)(q23;q13)

Kremer¹,

Mohamed²

2012

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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“…Specific BAC or fosmid probes selected from the Ensembl ( www.ensembl.org ) or UCSC (genome.ucsc.edu) databases were obtained from the BACPAC Resources Center at the Children's Hospital Oakland Research Institute, Oakland, CA, USA. DNA extractions, labeling and hybridizations were performed as previously reported [24] . All hybridized metaphases were captured on a Zeiss Axioplan 2 microscope (Zeiss, Zaventem, Belgium), and analyzed with the Isis software (Metasystems, Altlussheim, Germany).…”

Section: Methodsmentioning

confidence: 99%

Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

et al. 2011

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Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

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“…Genetic studies on MDS and MDS-related AML patients revealed various mutations, deletions and translocations in Ep300 gene 14–17 . The mutation rate of Ep300 ranges from 2 to 7% in different cohorts of patients in these studies.…”

Section: Introductionmentioning

confidence: 99%

Loss of p300 accelerates MDS-associated leukemogenesis

et al. 2016

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The role that changes in DNA methylation and histone modifications play in human malignancies is poorly understood. p300 and CBP, two distinct but highly homologous lysine acetyltransferases (KATs), are mutated in several cancers, suggesting their role as tumor suppressors. In the current study, we found that deletion of p300, but not CBP, markedly accelerated the leukemogenesis of Nup98-HoxD13 (NHD13) transgenic mice, an animal model that phenotypically copies human myelodysplastic syndrome (MDS). p300 deletion restored the ability of NHD13 expressing hematopoietic stem and progenitor cells (HSPCs) to self-renew in vitro, and to expand in vivo, with an increase in stem cell symmetric self-renewal divisions and a decrease in apoptosis. Furthermore, loss of p300, but not CBP, promoted cytokine signaling, including enhanced activation of the MAPK and JAK/STAT pathways in the HSPC compartment. Altogether, our data indicate that p300 plays a pivotal role in blocking the transformation of MDS to acute myeloid leukemia (AML), a role distinct from that of CBP.

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Novel variant form of t(11;22)(q23;q13)/MLL-EP300 fusion transcript in the evolution of an acute myeloid leukemia with myelodysplasia-related changes

Cited by 6 publications

References 5 publications

A case of Acute Lymphoblastic Leukemia with rare t(11;22)(q23;q13)

A case of Acute Lymphoblastic Leukemia with rare t(11;22)(q23;q13)

Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

Loss of p300 accelerates MDS-associated leukemogenesis

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