Cancers, Vol. 11, Pages 1951: Novel and Rare Fusion Transcripts Involving Transcription Factors and Tumor Suppressor Genes in Acute Myeloid Leukemia

Cancers, Vol. 11, Pages 1951: Novel and Rare Fusion Transcripts Involving Transcription Factors and Tumor Suppressor Genes in Acute Myeloid Leukemia Cancers doi: 10.3390/cancers11121951 Authors: Padella Simonetti Paciello Giotopoulos Baldazzi Righi Ghetti Stengel Guadagnuolo De Tommaso Papayannidis Robustelli Franchini Rorà Ferrari Fontana Bruno Ottaviani Soverini Storlazzi Haferlach Sabattini Testoni Iacobucci Huntly Ficarra Martinelli Approximately 18% of acute myeloid leukemia (AML) cases express a fusion transcript. However, few fusions are recurrent across AML and the identification of these rare chimeras is of interest to characterize AML patients. Here, we studied the transcriptome of 8 adult AML patients with poorly described chromosomal translocation(s), with the aim of identifying novel and rare fusion transcripts. We integrated RNA-sequencing data with multiple approaches including computational analysis, Sanger sequencing, fluorescence in situ hybridization and in vitro studies to assess the oncogenic potential of the ZEB2-BCL11B chimera. We detected 7 different fusions with partner genes involving transcription factors (OAZ-MAFK, ZEB2-BCL11B), tumor suppressors (SAV1-GYPB, PUF60-TYW1, CNOT2-WT1) and rearrangements associated with the loss of NF1 (CPD-PXT1, UTP6-CRLF3). Notably, ZEB2-BCL11B rearrangements co-occurred with FLT3 mutations and were associated with a poorly differe...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research