## Abstract __RUNX1__ (previously __AML1__) is involved in multiple recurrent chromosomal rearrangements in hematological malignances. Recently, we identified a novel fusion between __RUNX1__ and __LPXN__ from an acute myeloid leukemia (AML) patient with t(11;21)(q12;q22). This translocation genera
EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12)
✍ Scribed by Shuichi Yamaguchi; Yukari Yamazaki; Yuichi Ishikawa; Noriyoshi Kawaguchi; Hiroyuki Mukai; Takuro Nakamura
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 348 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
Abstract
POU5F1(OCT3/4) is a sequence‐specific transcription factor that is essential for keeping germ cells and embryonic stem cells in an immature and pluripotent status. In this article, we report that POU5F1 was fused to EWSR1 in a case of undifferentiated sarcoma derived from pelvic bone with chromosomal translocation t(6;22)(p21;q12). The EWSR1–POU5F1 chimera consists of exons 1–6 of EWSR1 and exons 2–5 and a part of exon 1 of POU5F1. The predicted amino acid sequence indicates that the chimera is composed of the N‐terminal QSY domain of EWS that functions as a transcriptional activation domain and the C‐terminal POU DNA‐binding domains derived from POU5F1. The t(6;22) tumor does not belong to any known categories of bone and soft‐tissue tumors (BSTs). It is suggested that EWS–POU5F1 may act as an oncogenic transcription factor and that its expression may contribute to undifferentiated and immature phenotypes of BST. © 2005 Wiley‐Liss, Inc.
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## Abstract The __AML1__ gene (also known as __RUNX1__) at 21q22 codes for core binding factor (CBF) α, which forms a heterodimer with CBF β that acts as a transcriptional activating factor. CBF is a critical regulator in the generation and differentiation of definitive hematopoietic stem cells and