Mixed Phenotype Acute Leukemia, B/Myeloid (Bilineal and Biphenotypic), With t(2;22)(q35;q12);EWSR1-FEV
| Autor: | Giovanni A. Botten, Jian Xu, Vikas Bhushan, Stanton Goldman, Maurizio Ghisoli, Prasad Koduru, Crystal Montgomery-Goecker, Weina Chen, JoEllen Krueger, Franklin Fuda |
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| Rok vydání: | 2019 |
| Předmět: |
Myeloid
Oncogene Proteins Fusion Nonsense mutation Context (language use) Cell Cycle Proteins Translocation Genetic Fusion gene 03 medical and health sciences 0302 clinical medicine Immunophenotyping Medicine Humans Acute leukemia business.industry Infant Hematology medicine.disease Leukemia Biphenotypic Acute DNA-Binding Proteins Leukemia Myeloid Acute medicine.anatomical_structure Oncology Codon Nonsense 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Cancer research Female Sarcoma RNA-Binding Protein EWS business 030215 immunology Lymphoid leukemia Transcription Factors |
| Zdroj: | Journal of pediatric hematology/oncology. 43(3) |
| ISSN: | 1536-3678 |
| Popis: | Background Ewing sarcoma breakpoint region 1 gene (EWSR1) rearrangements are largely associated with the Ewing sarcoma family of tumors. Observations We report the first case of infantile, mixed phenotype acute leukemia, B/myeloid (bilineal and biphenotypic [B-lymphoid and B-lymphoid/myeloid]), with a t(2;22)(q35;q12). The EWSR1-fifth Ewing variant gene fusion and nonsense mutation in STAG2 were detected by next-generation sequencing and markedly high expression of fifth Ewing sarcoma variant mRNA detected by quantitative reverse transcription polymerase chain reaction. The patient was treated with a combined myeloid/lymphoid leukemia regimen followed by allogeneic stem cell transplant and was in complete remission at 3.8-year follow-up. Conclusions Our case study underscores the importance of a comprehensive evaluation of acute leukemia and provides insights into the phenotype of EWSR1 rearranged neoplasms in the context of partner genes and cell type. |
| Databáze: | OpenAIRE |
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