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. 2022 Nov 3;12:1015792. doi: 10.3389/fonc.2022.1015792

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Copyright © 2022 Li, Zhang, Zhang, Lin and Liu

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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FGFR1 rearrangement involves three chromosomal abnormalities. 17 FGFR1 gene rearrangements existed in EMS, including 15 translocations, 1 insertion, and 1 inversion. (A) The 15 fusion genes are generated from chromosome translocation. It is illustrated by the case of ZNF198-FGFR1 to describe with which chromosome 8 and other chromosomes are formed by translocation. (B) FOP2-FGFR1 is the only rearrangement due to chromosome insertion. The FGFR1 gene on chromosome 8 and the FOP2 gene on the 12p11-p22 are breaking, and the dissociative FOP2 gene is reinserted into the FGFR1 gene fracture to form a fusion. (C) HOOK3-FGFR1 is a recently identified FGFR1 rearrangement in EMS, which is derived from chromosome inversion. The fragment between FGFR1 and HOOK3 genes located on the short arm of chromosome 8 is breaking, and the broken fragment is rotated 180 degrees, resulting in the fusion of HOOK3 and FGFR1.