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Acute lymphoblastic leukemia (ALL) with erythropoietin receptor (EPOR) gene rearrangement is rarely reported. These patients test negative for the Philadelphia chromosome but exhibit a gene expression profile similar to that of Philadelphia chromosome-positive acute lymphoblastic leukemia, leading to their designation as Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL). EPOR-rearranged ALL exhibits aggressive clinical course and dismal prognosis with a short remission duration and high level of minimal residual disease (MRD). The addition of tyrosine kinase inhibitors or Janus kinases inhibitors to conventional chemotherapy is an effective treatment approach for patients with Ph-like ALL. Here, we present two pediatric cases of Ph-like ALL with EPOR rearrangement that were treated with ruxolitinib and provide a literature review to assess the effectiveness of this treatment.
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1 Sichuan University, Department of Pediatric Hematology and Oncology, West China Second University Hospital, Chengdu, China (GRID:grid.13291.38) (ISNI:0000 0001 0807 1581); Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Chengdu, China (GRID:grid.13291.38) (ISNI:0000 0001 0807 1581)
2 Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Chengdu, China (GRID:grid.13291.38) (ISNI:0000 0001 0807 1581); Sichuan University, Department of Pediatrics, West China Second University Hospital, Chengdu, China (GRID:grid.13291.38) (ISNI:0000 0001 0807 1581)