30006000330066003300660036007200
5T/box(Ⅰ-01)10T/box(Ⅰ-02)5T/box(Ⅱ-01)10T/box(Ⅱ-02)5T/box(Ⅲ-01)10T/box(Ⅲ-02)5T/box(Ⅳ-01)10T/box (IV-02)

30006000330066003300660036007200
5T/box(Ⅰ-01)10T/box(Ⅰ-02)5T/box(Ⅱ-01)10T/box(Ⅱ-02)5T/box(Ⅲ-01)10T/box(Ⅲ-02)5T/box(Ⅳ-01)10T/box (IV-02)
Clinically relevant chromosomal abnormalities such as hyperdiploidy, hypodiploidy, t(12;21), t(1;19), t(9;22), and MLL translocations have been identified in approximately 3/4 of pediatric precursor B-cell ALL (BCP-ALL) patients. These targets play an important role in risk stratification and treatment. However, the pathogenesis and driver genes of the remaining BCP-ALL patients, called “B-others ALL”, are not fully understood.
MEF2D, ZNF384, and DUX4 are new fusion gene subtypes newly identified in “B-others ALL”.
In 2015, a study published in <Leukemia> showed that NGS sequencing of 55 patients without these chromosomal abnormalities identified 2 cases with EP300-ZNF384 fusions. The authors then identified 4 cases of this fusion gene in 346 BCP-ALL cases, none of which were accompanied by the above chromosomal abnormalities.