Mixed Phenotype Acute Leukemia, B/Myeloid (Bilineal and Biphenotypic), with t(2;22)(q35;q12); EWSR1 - FEV

Crystal Montgomery-Goecker, Prasad Koduru, Giovanni Botten, Jian Xu, Maurizio Ghisoli, Stanton C. Goldman, Joellen Krueger, Vikas Bhushan, Franklin Fuda, Weina Chen

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)e388-e394
JournalJournal of Pediatric Hematology/Oncology
Volume43
Issue number3
DOIs
StatePublished - 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

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