Therapy-induced Deletion in 11q23 Leading to Fusion of
| Autor: | Ioannis, Panagopoulos, Kristin, Andersen, Martine, Eilert-Olsen, Bernward, Zeller, Monica Cheng, Munthe-Kaas, Jochen, Buechner, Liv T N, Osnes, Francesca, Micci, Sverre, Heim |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Chromosomes
Human Pair 11 Nuclear Proteins Histone-Lysine N-Methyltransferase Precursor Cell Lymphoblastic Leukemia-Lymphoma Leukemia Myeloid Acute hemic and lymphatic diseases Guanine Nucleotide Exchange Factors Humans Female Gene Fusion Child Gene Deletion Myeloid-Lymphoid Leukemia Protein Research Article |
| Zdroj: | Cancer Genomics Proteomics |
| ISSN: | 1790-6245 |
| Popis: | Background/Aim: Fusion of histone-lysine N-methyltransferase 2A gene (KMT2A) with the Rho guanine nucleotide exchange factor 12 gene (ARHGEF12), both located in 11q23, was reported in some leukemic patients. We report a KMT2A-ARHGEF12 fusion occurring during treatment of a pediatric acute myeloid leukemia (AML) with topoisomerase II inhibitors leading to a secondary acute lymphoblastic leukemia (ALL). Materials and Methods: Multiple genetic analyses were performed on bone marrow cells of a girl initially diagnosed with AML. Results: At the time of diagnosis with AML, the t(9;11)(p21;q23)/KMT2A-MLLT3 genetic abnormality was found. After chemotherapy resulting in AML clinical remission, a 2 Mb deletion in 11q23 was found generating a KMT2A-ARHGEF12 fusion gene. When the patient later developed B lineage ALL, a t(14;19)(q32;q13), loss of one chromosome 9, and KMT2A-ARHGEF12 were detected. Conclusion: The patient sequentially developed AML and ALL with three leukemia-specific genomic abnormalities in her bone marrow cells, two of which were KMT2A-rearrangements. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|