The adult HNRNPH1::ERG positive acute myeloid leukemia with clear lower remission and worse prognosis: A case report and review of the literature.

RATIONALE: Acute myeloid leukemia (AML) derived from t(5;21)(q35;q22) translocation, post-transcriptional translation, forming the HNRNPH1::ERG fusion gene is a rare group of recurrent chromosomal abnormality myeloid malignancies. Only 1 adult case of AML has been reported so far. Here we identified a disparate adult case of HNRNPH1::ERG positive AML with clear breakpoint locations by utilizing The RNA sequencing(RNA-seq) and we addressed the clinical, treatment, pathological and molecular mechanism, along with a review of the literature.

PATIENTS CONCERNS: A 54-year-old man visited our department with fever and fatigue for 10 days.

DIAGNOSES: Diagnosed with acute myeloid leukemia (AML) through morphology, immunology, Cytogenetics, and Molecular biology (MICM) typing, with a confirmed HNRNPH1-ERG fusion gene.

INTERVENTIONS: Multiple induction chemotherapy combined with targeted therapy was performed.

OUTCOMES: He died in February 2024.

LESSONS: In our review, Only 1 adult case of AML has been reported so far. To summarize the 5 cases in the studies, the HNRNPH1::ERG positive AML cases had a significantly higher blast cell counts and more frequently companied with rare gene mutations, which characterized poorer prognosis and lower remission in adult HNRNPH1::ERG positive AML.