GLIS2
Overview
GLIS2 (GLIS family zinc finger 2) encodes a Kruppel-like zinc-finger transcription factor. In pediatric acute megakaryoblastic leukemia (AMKL), the CBFA2T3–GLIS2 fusion gene is a recurrent and diagnostically defining event associated with poor prognosis. The fusion arises from a cryptic inversion of chromosome 16 and is not reliably detected by standard karyotype.
Alterations observed in the corpus
- CBFA2T3–GLIS2 fusion detected in a pediatric patient with acute megakaryoblastic leukemia (AMKL) in the PIPseq cohort; confirmed by RNA-seq; served as a diagnostic marker and poor-prognosis indicator that supported recommendation for bone-marrow transplant PMID:28007021.
Cancer types (linked)
- AMKL — CBFA2T3–GLIS2 fusion is a diagnostic and poor-prognosis marker; detection by RNA-seq is essential as the cryptic inv(16) is often missed by standard karyotyping PMID:28007021.
Co-occurrence and mutual exclusivity
- No co-occurrence or mutual exclusivity data reported in the corpus beyond the CBFA2T3 fusion partnership.
Therapeutic relevance
- CBFA2T3–GLIS2 fusion-positive AMKL is associated with poor prognosis; the PIPseq cohort used the finding to support bone-marrow transplant recommendation; no direct targeted therapy against the fusion is described in the corpus PMID:28007021.
Open questions
- The optimal treatment strategy for CBFA2T3–GLIS2-positive AMKL remains an active area of investigation; whether GLIS2-directed or fusion-targeted approaches can improve outcomes is not established.
Sources
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