@article {PANAGOPOULOS121, author = {IOANNIS PANAGOPOULOS and KRISTIN ANDERSEN and MARTINE EILERT-OLSEN and ANNE GRO ROGNLIEN and MONICA CHENG MUNTHE-KAAS and FRANCESCA MICCI and SVERRE HEIM}, title = {Rare KMT2A-ELL and Novel ZNF56-KMT2A Fusion Genes in Pediatric T-cell Acute Lymphoblastic Leukemia}, volume = {18}, number = {2}, pages = {121--131}, year = {2021}, doi = {10.21873/cgp.20247}, publisher = {International Institute of Anticancer Research}, abstract = {Background/Aim: Previous reports have associated the KMT2A-ELL fusion gene, generated by t(11;19)(q23;p13.1), with acute myeloid leukemia (AML). We herein report a KMT2A-ELL and a novel ZNF56-KMT2A fusion genes in a pediatric T-lineage acute lymphoblastic leukemia (T-ALL). Materials and Methods: Genetic investigations were performed on bone marrow of a 13-year-old boy diagnosed with T-ALL. Results: A KMT2A-ELL and a novel ZNF56-KMT2A fusion genes were generated on der(11)t(11;19)(q23;p13.1) and der(19)t(11;19)(q23;p13.1), respectively. Exon 20 of KMT2A fused to exon 2 of ELL in KMT2A-ELL chimeric transcript whereas exon 1 of ZNF56 fused to exon 21 of KMT2A in ZNF56-KMT2A transcript. A literature search revealed four more T-ALL patients carrying a KMT2A-ELL fusion. All of them were males aged 11, 11, 17, and 20 years. Conclusion: KMT2A-ELL fusion is a rare recurrent genetic event in T-ALL with uncertain prognostic implications. The frequency and impact of ZNF56-KMT2A in T-ALL are unknown.}, issn = {1109-6535}, URL = {https://cgp.iiarjournals.org/content/18/2/121}, eprint = {https://cgp.iiarjournals.org/content/18/2/121.full.pdf}, journal = {Cancer Genomics \& Proteomics} }