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| Home > Publications database > Enhancer hijacking discovery in acute myeloid leukemia by pyjacker identifies MNX1 activation via deletion 7q. > print |
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| 100 | 1 | _ | |a Sollier, Etienne |0 P:(DE-He78)690891e88caacd9f6327522d7d167149 |b 0 |e First author |u dkfz |
| 245 | _ | _ | |a Enhancer hijacking discovery in acute myeloid leukemia by pyjacker identifies MNX1 activation via deletion 7q. |
| 260 | _ | _ | |a Philadelphia, PA |c 2025 |b American Association for Cancer Research |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
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| 500 | _ | _ | |a #EA:B370#EA:B087#LA:B370#LA:B340# / 2025 Jul 1;6(4):343-363 |
| 520 | _ | _ | |a Acute myeloid leukemia with complex karyotype (ckAML) is characterized by high genomic complexity, including frequent TP53 mutations and chromothripsis. Genomic rearrangements that reposition active enhancers near proto-oncogenes, leading to their aberrant expression, have not been systematically investigated in AML. To facilitate the discovery of such 'enhancer hijacking' events, we developed pyjacker, a computational tool, and applied it to 39 ckAML samples. Pyjacker identified several enhancer hijacking events in AML patient samples, including aberrant expression of motor neuron and pancreas homeobox 1 (MNX1), which can result from del(7)(q22q36) and is associated with hijacking of a CDK6 enhancer. MNX1 activation occurs in 1.4% of AML patients and shows significant co-occurrence with BCOR mutations. Through a xenograft mouse model, we demonstrated that MNX1 is required for leukemia cell fitness. Pyjacker is an easy-to-use, accurate, and broadly applicable tool for identifying consequences of genomic events driving tumorigenesis, especially when germline genomic data is missing. |
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