Abstract
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.
Original language | English (US) |
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Pages (from-to) | e388-e394 |
Journal | Journal of Pediatric Hematology/Oncology |
Volume | 43 |
Issue number | 3 |
DOIs | |
State | Published - Apr 2021 |
Keywords
- EWSR1
- EWSR1-FEV
- Ewing sarcoma
- STAG2
- acute leukemia
- flow cytometry
- immunophenotype
- mixed phenotype acute leukemia
- next-generation sequencing
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology