Rare and novel RUNX1 fusions in myeloid neoplasms: A single‐institute experience
| Autor: | Rose Khoobyar, Mikhail Roshal, Maria E. Arcila, Jinjuan Yao, Wenbin Xiao, Angela Scalise, Umut Aypar, Dory Londono, Yanming Zhang |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Cancer Research Myeloid Oncogene Proteins Fusion MECOM Chromosomal translocation Biology Fusion gene 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine hemic and lymphatic diseases Genetics medicine Humans Aged Aged 80 and over RUNX1T1 Myeloid leukemia Middle Aged Precursor Cell Lymphoblastic Leukemia-Lymphoma ETV6 medicine.anatomical_structure RUNX1 chemistry Myelodysplastic Syndromes 030220 oncology & carcinogenesis Core Binding Factor Alpha 2 Subunit Mutation embryonic structures Cancer research Female Neoplasm Grading |
| Zdroj: | Genes, Chromosomes and Cancer. 60:100-107 |
| ISSN: | 1098-2264 1045-2257 |
| Popis: | Chromosome translocations involving the RUNX1 gene at 21q22 are recurring abnormalities in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), that is, t(8;21) and t(3;21) and in B-cell acute lymphoblastic leukemia with t(12;21). These translocations result in the fusion of RUNX1 with RUNX1T1, MECOM, and ETV6, respectively, and are implicated in leukemogenesis. Here we describe 10 rare RUNX1 fusion gene partners, including six novel fusions, in myeloid neoplasia. Comprehensive molecular testing revealed the partner genes and features of these fusions in all the tested patients, and detected various recurring myeloid related gene mutations in eight patients. In two patients, RUNX1 mutations were identified. Most of these fusions were detected in patients with high-grade MDS and AML with a relatively short survival. Integration of conventional chromosome analysis, FISH testing and molecular genetic studies allow a comprehensive characterization of these rare RUNX1 fusions. Our study may help define myeloid neoplasms with rare and novel RUNX1 translocations and support appropriate patient management. |
| Databáze: | OpenAIRE |
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