For example, HLH-mediated oligomerization between WT ETV6 and ETV6:JAK2 may reduce the availability of the endogenous ETV6 HLH motif, which normally maintains long-term transcriptional repression of genes by interaction with Polycomb group complexes (De Braekeleer et al., 2012).

2014年3月1日 · The HLH domain of ETV6 is fused to the protein kinase domain(s), the ATP nucleotide binding, and the loop structure of JAK2; according to the different possible breakpoints, the resulting protein contains 475, 654, or 876 amino acids.

2017年2月9日 · ETV6-JAK2 and BCR-JAK2 may be considered variants of PCM1-JAK2; the small number of ETV6-JAK2 and BCR-JAK2 cases have presented as myeloid neoplasms with variable presence of eosinophilia or features of BCR-ABL1-like ALL.

Taken together, the zebrafish modeling of ETV6-JAK2 leukemia by Onnebo and colleagues described in this issue of the Journal provides evidence for the in vivo potential of ETV6-JAK2 fusion variants initially cloned from patients with acute and chronic leukemia.

2012年8月1日 · The ETV6-JAK2 fusion gene generated by the t(9;12)(p24;p13) has been described in only three patients with different types of malignant hemopathies. Peeters et al.

Background: Chromosomal translocations resulting in alternative fusions of the human TEL (ETV6) and JAK2 genes have been observed in cases of acute lymphoblastic leukemia and chronic myelogenous leukemia, but a full understanding of their role in disease etiology has remained elusive.

The JAK2 p.G993A mutation confers resistance in vitro, even to high dose JAK2 inhibitors such as ruxolitinib. We postulated that direct inhibition of STAT3 and STAT5, downstream from JAK2, may overcome resistance.

Both changes involved the ETV6 gene at 12p13 and the JAK2 gene at 9p24. In each case different fusion mRNAs were found, with only 1 resulting in a chimeric protein consisting of the oligomerization domain of ETV6 and the protein tyrosine kinase domain of JAK2.

1997年10月1日 · We here report the identification of JAK2 as a fusion partner of ETV6 in t (9; 12) (p24; p13) found in leukemic cells of a child with early B-precursor ALL and in t (9; 15; 12) (p24; q15; p13) found in an adult patient with atypical CML.

Both changes involved the ETV6 gene at 12p13 and the JAK2 gene at 9p24. In each case different fusion mRNAs were found, with only 1 resulting in a chimeric protein consisting of the oligomerization domain of ETV6 and the protein tyrosine kinase domain of JAK2.