KMT2A::NRIP3 Fusion Gene in the First Reported Case of B-Cell Acute Lymphoblastic Leukemia.
증례보고
1/5 보강
[BACKGROUND] The KMT2A rearrangements is primarily caused by balanced translocations, with only a very small fraction resulting from deletions or inversions within the long arm of chromosome 11.
APA
Huang B, Jia Y, et al. (2026). KMT2A::NRIP3 Fusion Gene in the First Reported Case of B-Cell Acute Lymphoblastic Leukemia.. Journal of pediatric hematology/oncology, 48(1), e41-e46. https://doi.org/10.1097/MPH.0000000000003137
MLA
Huang B, et al.. "KMT2A::NRIP3 Fusion Gene in the First Reported Case of B-Cell Acute Lymphoblastic Leukemia.." Journal of pediatric hematology/oncology, vol. 48, no. 1, 2026, pp. e41-e46.
PMID
41191823
Abstract
[BACKGROUND] The KMT2A rearrangements is primarily caused by balanced translocations, with only a very small fraction resulting from deletions or inversions within the long arm of chromosome 11.
[OBSERVATIONS] We present a rare case of KMT2A::NRIP3 fusion-positive B-ALL identified through whole transcriptome sequencing (WTS) resulting from pericentric inversion of chromosome 11. Whole-genome sequencing (WGS) analysis revealed that the breakpoints of the KMT2A::NRIP3 fusion were located deep within intron 8 of KMT2A and intron 1 of NRIP3 , accompanied by a pathogenic hotspot mutation (p.Pro74Leu) in the MYC gene. In addition, we found that NRIP3 may negatively regulate Cyclin D1 ( CCND1 ) in acute myeloid leukemia (AML) but not in B-ALL patients.
[CONCLUSIONS] The rare KMT2A::NRIP3 fusion gene can be observed not only in pediatric AML patients, but also in B-ALL patients.
[OBSERVATIONS] We present a rare case of KMT2A::NRIP3 fusion-positive B-ALL identified through whole transcriptome sequencing (WTS) resulting from pericentric inversion of chromosome 11. Whole-genome sequencing (WGS) analysis revealed that the breakpoints of the KMT2A::NRIP3 fusion were located deep within intron 8 of KMT2A and intron 1 of NRIP3 , accompanied by a pathogenic hotspot mutation (p.Pro74Leu) in the MYC gene. In addition, we found that NRIP3 may negatively regulate Cyclin D1 ( CCND1 ) in acute myeloid leukemia (AML) but not in B-ALL patients.
[CONCLUSIONS] The rare KMT2A::NRIP3 fusion gene can be observed not only in pediatric AML patients, but also in B-ALL patients.
MeSH Terms
Humans; Chromosomes, Human, Pair 11; Histone-Lysine N-Methyltransferase; Membrane Proteins; Myeloid-Lymphoid Leukemia Protein; Oncogene Proteins, Fusion; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Proto-Oncogene Proteins
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