Fusion of ETV6 with an intronic sequence of the BAZ2A gene in a paediatric pre-B acute lymphoblastic leukaemia with a cryptic chromosome 12 rearrangement

British Journal of Haematology
I PanagopoulosBertil Johansson

Abstract

ETV6 at 12p13 is rearranged in a variety of haematological malignancies and solid tumours, with more than 20 different partners having been reported. These fusions result in either chimeric proteins or activation of the partner gene. However, there are a few examples of abnormalities resulting in truncated and, most likely, unproductive ETV6 proteins, suggesting that haploinsufficiency of ETV6 and/or the partner is leukaemogenic. We present a novel ETV6 rearrangement, identified in a paediatric pre-B acute lymphoblastic leukaemia. Fluorescence in situ hybridisation (FISH) and molecular genetic analyses revealed a fusion of ETV6 and BAZ2A (at 12q13), generated through a cryptic rearrangement between 12p13 and 12q13, consisting of exons 1 and 2 of ETV6 and a sequence from intron 1 of BAZ2A. This transcript is not expected to produce any chimeric protein, but may encode a truncated form of ETV6, containing the first 54 amino acids (aa), followed by 16 aa from the 3' fusion sequence, reminiscent of ETV6 fusions with MDS2, LOC115548, PER1, and STL. The rearrangement might also modify the regulation of BAZ2A by either activating a cryptic promoter or by coming under the control of the ETV6 promoter. The present case emphasises that '...Continue Reading

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Citations

Mar 16, 2007·Nature Reviews. Cancer·Felix MitelmanFredrik Mertens
Feb 24, 2010·Prostate Cancer and Prostatic Diseases·L ShanUNKNOWN Transatlantic Prostate Group
Dec 29, 2015·Biochemical Pharmacology·Elena FerriCharles E McKenna
May 15, 2012·Leukemia Research·Etienne De BraekeleerMarc De Braekeleer
Apr 16, 2011·Cancer Cell International·Frida AbelStaffan Nilsson
Nov 6, 2021·Journal of Experimental & Clinical Cancer Research : CR·Yanan LiZi Wang

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