IndraLab

Statements

RUNX1 binds USP42. 5 / 5
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"Of note, del(5q) occurs as a secondary abnormality in at least two subtypes of AML with cryptic abnormalities: t(5;11)(q35;p15)/ NUP98-NSD1 and the rare t(7;21)(p22;q22)/ RUNX1-USP42 , thus emphasizing the need for a complete cytogenetic and molecular screening of such cases [ xref , xref , xref ]."
34204358
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"Today, t(7;21)(p22;q22)/ RUNX1-USP42 is considered a rare nonrandom genomic aberration of myeloid malignancies which is frequently seen together with del(5q) [ xref – xref ]."
29672642
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"Recently, it was suggested that AML with diploidy/tetraploidy and/or 5q alterations may be associated with the cryptic translocation, t(7;21)(p22;q22) resulting in RUNX1-USP42 gene fusion and this association may have been underestimated."
34974291
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"The t(7;21)(p22;q22) which generates the RUNX1-USP42 fusion gene was originally found in a 7-year-old boy with AML-M0 [ xref ]."
29672642
sparser
"Whole-genome sequencing identified cytogenetically cryptic structural variants in 13 patients, including complex or cryptic chromosomal translocations involving the inv(16)(p13.1q22) fusion gene CBFB–MYH11 in 2 patients, the t(7;21) (p22;q22) fusion gene USP42–RUNX1 in 1 patient, and 10 rearrangements involving KMT2A , all of which were verified with the use of orthogonal methods ( xref and xref , xref , and xref in the xref )."
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