IndraLab

Statements

USP42 binds RUNX1. 19 / 19
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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
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"The RUNX1-USP42 fusion transcripts of the three cases presented here were identical to those described previously (6–8) , which code for a putative chimeric protein composed of DNA-binding domains of [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
22867997
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"However, the relationship between RUNX1-USP42 and hemophagocytosis remains unknown."
22867997
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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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"Segmental duplications (SDs), which are considered a common phenomenon and account for approximately 7% (or 218 Mbp) of the human genome [ xref ], have been reported to be associated with the formation of chimeric fusion genes, such as BCR::ABL1 through t(9;22)(q34;q11.2) [ xref ] and RUNX1::USP42 through ins(21;7)(q22;p15p22) [ xref ], in myeloid malignancies."
36011278
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"The remaining patients harbored already reported fusions that do not impact our current treatment protocols ( STIL::TAL1, RBM15::MKL1, PICALM::MLLT10 ) and novel fusions recently reported in the literature with potential or clinical impact in therapeutic protocols [ P2RY8::CRLF2, MEF2D::BCL9, MEF2D::CSF1R, ETV6::ABL1, TCF3::ZNF384, PAX5::NOL4L, RUNX1::CBFA2T3, RUNX1::USP42 , and TBL1XR1::TP63 ( xref )]."
35463953
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"We detected a total of 86 genetic aberrations in 39 patients (87%), 4 gene fusions of KMT2A-SEPT9 , KMT2A-ELL, NUP98-NSD1 , and RUNX1-USP42 , and 82 somatic mutations in 20 genes."
35566503
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"In the same line, some of the most recurrent fusion genes in pediatric leukemia were found in our cohort ( ETV6::RUNX1, STIL::TAL1, KMT2A -rearrangements, RUNX1::RUNX1T1, BCR::ABL1 ), as well as other novel rearrangements described, most of them associated with BCP-ALL B-other subtypes ( MEF2D::BCL9, MEF2D::CSF1R, ETV6::ABL1, TCF3::ZNF384, and PAX5::NOL4L ) or to rare and/or recent AML fusions reported in the literature ( RUNX1::CBFA2T3, RBM15::MKL1, RUNX1::USP42, and TBL1XR1::TP63 ) ( xref ; xref ; xref )."
35463953
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"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 )."
33704937
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"The second case, t(7;21)(q22;q22), suspected as RUNX1::USP42 [ xref ], was detected in one patient with no detection in this specific case."
39001529
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"The patients in the remaining cluster, carried various nonrecurrent rearrangements, including BCL11B rearrangements (n=2), CBFB-MYH11 (n=2), ETV6-MECOM (n=1), KMT2A-MLLT10 (n=1), MECOM (n=1), NUP98-HOXA13 (n=1), SFPQ-ZFP36L2 (n=1), MED12-HOXA9 (n=1), PIM1-BRD1 (n=1), CBFA2T3-GLIS2 (n=1), PICALM-MLLT10 (n=1), RUNX1-USP42 (n=1)."
35899387
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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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"Chromosomal abnormalities, particularly fusion genes like RUNX1-USP42, play a significant role in the AML."
39048945
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"In AML, the emergence of the RUNX1-USP42 fusion gene is primarily due to the translocation between chromosomes 7 and 21."
39048945
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"Reverse transcription–polymerase chain reaction (RT-PCR) analysis of RNA from the three patients with a t(7;21) confirmed the presence of a RUNX1-USP42 fusion transcript within the der(7) ( Figure 2 A[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
22867997
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"In all three patients, the reciprocal USP42-RUNX1 transcript on the der(21) was detected by RT-PCR ( Figure 2 A) and confirmed by direct sequencing (data not shown)."
22867997
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"Our findings suggest that the presence of a t(7;21) may represent a specific entity in AML including (i) AML with t(7;21) and RUNX1-USP42 fusion transcripts associated with 5q abnormalities resulting [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
22867997
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"Previous studies analyzing the RUNX1-USP42 chimera have predicted all patients with the t(7;21)(p22;q22) translocation will contain the DNA-binding Runt domain; however, they will be missing the 3′ un[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
34974291
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"Hence, the RUNX1-USP42 chimera may have a two-fold mechanism in disrupting normal hematopoiesis: RUNX1’s dominant negative inhibition and USP42’s destabilization of P53."
34974291