Ioannis Panagopoulos1, Kristin Andersen2, Martine Eilert-Olsen2, Anne Gro Rognlien3, Monica Cheng Munthe-Kaas3, Francesca Micci2, Sverre Heim2,4. 1. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; ioannis.panagopoulos@rr-research.no. 2. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 3. Department of Pediatric Hematology and Oncology, Oslo University Hospital Rikshospitalet, Oslo, Norway. 4. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
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. Copyright
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. Copyright
Authors: Jayne Y Hehir-Kwa; Marco J Koudijs; Eugene T P Verwiel; Lennart A Kester; Marc van Tuil; Eric Strengman; Arjan Buijs; Mariëtte E G Kranendonk; Laura S Hiemcke-Jiwa; Valerie de Haas; Ellen van de Geer; Wendy de Leng; Jasper van der Lugt; Philip Lijnzaad; Frank C P Holstege; Patrick Kemmeren; Bastiaan B J Tops Journal: JCO Precis Oncol Date: 2022-01