ArticleCold Spring Harbor molecular case studies2022
Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy.
Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Novel classification system and high-risk categories of pediatric acute myeloid leukemia.Haematologica · 2025Review
- Review
- Recent Updates in Venetoclax Combination Therapies in Pediatric Hematological Malignancies.International journal of molecular sciences · 2023Review
- Venetoclax in combination with chemotherapy as treatment for pediatric advanced hematologic malignancies.Pediatric blood & cancer · 2023Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Infants diagnosed with acute myeloid leukemia (AML) frequently harbor cytogenetically cryptic fusions involving KMT2A, NUP98 or GLIS2. Those with AML driven specifically by CBFA2T3::GLIS2 fusions have a dismal prognosis and are currently risk-stratified to receive hematopoietic stem cell transplantation (HSCT) in first remission. Here we report an infant with AML who was refractory to multiple lines of chemotherapy but lacked an identifiable fusion despite cytogenetic, fluorescence in situ hybridization (FISH) and targeted next generation sequencing (NGS) testing. Research-grade RNASeq from a relapse sample revealed in-frame CBFA2T3::GLIS3 and GLIS3::CBFA2T3 fusions. A patient-derived xenograft (PDX) generated from this patient has a short latency period and represents a strategy to test novel agents that may be effective in this aggressive subtype of AML. This report describes the first case of AML with a CBFA2T3::GLIS3 fusion and highlights the need for unbiased NGS testing including RNASeq at diagnosis, as patients with CBFA2T3::GLIS3 fusions should be considered for HSCT in first remission.
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