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Evidence across multiple studies suggests a potential association between CEBPZ and acute myeloid leukemia, although the genetic data remain limited. A focused analysis in an AML subgroup with isolated trisomy 13 identified CEBPZ mutations in 2 unrelated probands (PMID:24923295), indicating a possible role for this gene in leukemogenesis. Additional large‐scale gene panel studies have included CEBPZ among several recurrently mutated genes in AML (PMID:33049054, PMID:32139296), but these reports do not provide extensive segregation or variant‐specific data. The lack of targeted functional experiments means that the pathogenic mechanism of CEBPZ in AML, whether via haploinsufficiency or a dominant effect, remains speculative. Inheritance in the context of AML is somatic rather than germline, and no familial segregation has been documented for CEBPZ variants. Although the observation of recurrent mutations supports a potential clinical role, the overall evidence falls short of a robust ClinGen classification. Additional studies, including functional assays and broader cohort analyses, are required to clearly define the clinical utility of CEBPZ testing in AML.
Gene–Disease AssociationLimitedLimited reports indicate CEBPZ mutations in approximately 2 unrelated AML probands (PMID:24923295) with additional panel evidence from independent studies (PMID:33049054, PMID:32139296). Genetic EvidenceLimitedMutation screening has identified CEBPZ alterations in a small subset of AML patients without clear segregation or comprehensive variant-specific details. Functional EvidenceLimitedThere are no direct functional studies evaluating CEBPZ in AML; its inclusion in multi-gene panels provides only indirect support for a pathogenic role. |