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Published on: December 4, 2018
KMT2A::NRIP3 Fusion Gene in the First Reported Case of B-Cell Acute Lymphoblastic Leukemia
Bingqing Huang1,2, Yujiao Jia1,2, Benquan Qi1
1State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.
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.
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