Rearrangement of the ALL1 Gene in Acute Myeloid Leukemia without Chromosomal Translocations

1995 ◽  
pp. 35-48
Author(s):  
Steven A. Schichman ◽  
Carlo M. Croce
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Chromosomal Translocations ◽  
Acute Myeloid

scholarly journals Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations

Blood ◽  
2014 ◽  
Vol 124 (9) ◽  
pp. 1445-1449 ◽  
Author(s):  
Jean-Baptiste Micol ◽  
Nicolas Duployez ◽  
Nicolas Boissel ◽  
Arnaud Petit ◽  
Sandrine Geffroy ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Chromosomal Translocations ◽  
Key Points ◽  
Acute Myeloid

Key Points ASXL2 was mutated in 22.7% (25/110) of adult and pediatric t(8;21)/RUNX1-RUNX1T1 acute myeloid leukemia patients. ASXL2 mutations are mutually exclusive with ASXL1 mutations and occur in t(8;21) but not inv(16)/t(16;16) or RUNX1-mutant AML.

Chromosomal Translocations in Secondary Acute Myeloid Leukemia

1996 ◽  
Vol 334 (9) ◽  
pp. 601-603 ◽  
Author(s):  
Janet D. Rowley ◽  
Christine Vignon ◽  
Susanne M. Gollin ◽  
Carol L. Rosenberg ◽  
Herman E. Wyandt ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Chromosomal Translocations ◽  
Secondary Acute Myeloid Leukemia ◽  
Acute Myeloid

scholarly journals Next-Generation Sequencing Analysis Revealed That BCL11B Chromosomal Translocation Cooperates with Point Mutations in the Pathogenesis of Acute Myeloid Leukemia

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2352-2352
Author(s):  
Antonella Padella ◽  
Giorgia Simonetti ◽  
Viviana Guadagnuolo ◽  
Emanuela Ottaviani ◽  
Anna Ferrari ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Chromosomal Translocations ◽  
Causative Role ◽  
Allogeneic Bone ◽  
Sequencing Analysis ◽  
Gene Fusions ◽  
Whole Exome ◽  
Acute Myeloid

Abstract Whole exome and transcriptome sequencing (WES and RNAseq) technologies are able to provide a comprehensive analysis of the genomic aberrations acquired by malignant cells, of their synergistic effects and functional consequences. In particular, RNAseq enables the detection of gene fusions originating from rare chromosomal translocations that have been involved in the pathogenesis of Acute Myeloid Leukemia (AML). We performed WES and RNAseq of AML patients to identify novel genetic abnormalities playing a causative role in leukemia development. We collected bone marrow or peripheral blood samples of 31 patients. Sequencing was performed using the Illumina Hiseq2000 platform. WES raw data were analysed with Whole-Exome sequencing Pipeline web tool for variants detection (WEP). The presence of gene fusions was assessed in RNAseq data with deFuse and Chimerascan. Selected genes fusions and variants were validated by Sanger sequencing. By RNAseq we identified a rare gene fusion transcript involving the BCL11B gene, which been previously suggested to play an oncogenic role in AML. The gene encodes for a zinc-finger protein participating to chromatin remodelling and regulating the differentiation and apoptosis of hematopoietic cells. The fusion was identified in a patient with poorly differentiated leukemia phenotype and unfavourable karyotypic abnormalities: 46,XX, t(2;14)(q21;q32), t(11;12)(p15;q22), who received standard chemotherapy, underwent allogeneic bone marrow transplantation and is currently in complete remission. Differently from previous data, the BCL11B translocation was associated neither with FLT3-ITD nor DNMT3A mutations. WES analysis revealed mutations in the TET2 and WTAP genes, which are known to act as co-players in the leukemic transformation. The exome data of our AML cohort identified neither INDELs nor nonsynonymous mutations in the BCL11Bgene, suggesting that the oncogenic function of BCL11B is activated by chromosomal translocations. Gene expression profiling showed a 4-fold upregulation of BCL11B transcript in the patient’s blasts, compared to 53 AML samples with no chromosomal aberrations in the 14q32 region, according to cytogenetic analysis. The increased expression of BCL11B was associated with an upregulation of potential targets including the antiapoptotic protein SPP1. Our data suggest that chromosomal translocations involving the BCL11B gene are rare events in AML and associate with somatic mutations in the malignant transformation of myeloid lineage cells, potentially by altering the differentiation and apoptotic processes. Future studies will investigate putative fusion partners of BCL11Band elucidate the biological consequences of its upregulation in AML pathogenesis. The results highlight the molecular heterogeneity of AML and the need for high-resolution sequencing analysis of leukemic samples at diagnosis in order to tailor personalized therapies. Supported by: FP7 NGS-PTL project, ELN, AIL, AIRC, PRIN, progetto Regione-Università 2010-12 (L. Bolondi). Disclosures Martinelli: Novartis: Consultancy, Speakers Bureau; BMS: Consultancy, Speakers Bureau; Pfizer: Consultancy; ARIAD: Consultancy.

scholarly journals A Mechanism of Repression by Acute Myeloid Leukemia-1, the Target of Multiple Chromosomal Translocations in Acute Leukemia

2000 ◽  
Vol 275 (1) ◽  
pp. 651-656 ◽  
Author(s):  
Bart Lutterbach ◽  
Jennifer J. Westendorf ◽  
Bryan Linggi ◽  
Stuart Isaac ◽  
Edward Seto ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Acute Leukemia ◽  
Myeloid Leukemia ◽  
Chromosomal Translocations ◽  
Acute Myeloid

scholarly journals Acute myeloid leukemia with the 8q22;21q22 translocation: secondary mutational events and alternative t(8;21) transcripts

Blood ◽  
2007 ◽  
Vol 110 (3) ◽  
pp. 799-805 ◽  
Author(s):  
Luke F. Peterson ◽  
Anita Boyapati ◽  
Eun-Young Ahn ◽  
Joseph R. Biggs ◽  
Akiko Joo Okumura ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Fusion Proteins ◽  
Myeloid Leukemia ◽  
Chromosomal Translocation ◽  
Chromosome 8 ◽  
Chromosome 21 ◽  
Chromosomal Translocations ◽  
Runx1 Gene ◽  
Myeloid Leukemias ◽  
Acute Myeloid

Abstract Nonrandom and somatically acquired chromosomal translocations can be identified in nearly 50% of human acute myeloid leukemias. One common chromosomal translocation in this disease is the 8q22;21q22 translocation. It involves the AML1 (RUNX1) gene on chromosome 21 and the ETO (MTG8, RUNX1T1) gene on chromosome 8 generating the AML1-ETO fusion proteins. In this review, we survey recent advances made involving secondary mutational events and alternative t(8;21) transcripts in relation to understanding AML1-ETO leukemogenesis.

Author response for "Over expression of brain and acute leukemia, cytoplasmic and ETS-related gene is associated with poor outcome in acute myeloid leukemia"

2020 ◽  
Author(s):  
Hasan, Syed Khizer ◽  
Patkar, Nikhil V. ◽  
Rajamanickam, Deepan ◽  
Gokarn, Anant ◽  
Lucena-Araujo, Antonio R. ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Acute Leukemia ◽  
Myeloid Leukemia ◽  
Author Response ◽  
Related Gene ◽  
Over Expression ◽  
Poor Outcome ◽  
Acute Myeloid
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