IndraLab

Statements

USP42 binds RUNX1. 21 / 21
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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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"In this latter patient (case 7), the recipient origin of the MS 171 months after the SCT was confirmed by the identification of an NF1 polymorphism in both pre‐ and post‐transplant samples, but the RUNX1::USP42 fusion in the MS could not be analyzed in the pre‐transplant BMB for technical reasons."
40906433
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"Many of the remaining pediatric AML cases had structural variations leading to in-frame fusion events (e.g., MLLT10 fusions not with KMT2A or PICALM or RUNX1::USP42 ) 20.21 that likely drive AML, but that are not recurrent enough to warrant designation as a distinct molecular category without interrogating additional datasets."
39781610
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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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"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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"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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"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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"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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"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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"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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"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