Objective: To investigate the characteristics of hematological malignancies in patients with the SET-CAN  fusion gene and provide a literature review.
Methods: We retrospectively analyzed the clinical data of three cases of acute leukemia and myeloid neoplasms harboring the SET-CAN  fusion gene who were treated at our hospital. Their clinical manifestations, pathological results and treatment strategies were investigated.
Results: The three cases were diagnosed with T-cell acute lymphoblastic leukemia (T-ALL), acute myeloid leukemia (AML) and myeloid sarcoma (MS), respectively. Karyotype analyses identified a normal result in all three patients. Subsequently, we confirmed del(9q34) utilizing FISH analysis. Mutation of the BRAF  gene was detected in case 1, while mutations in PHF6  and BCOR  were detected in case 2, which have not been officially reported in patients with SET-CAN  fusions. Finally, relevant literature focusing on adult patients with hematological malignancies harboring the SET-CAN  fusion gene were summarized.
Conclusion: Adult patients with the SET-CAN  fusion gene were rare among cases of hematological malignancies. There was a large degree of heterogeneity between different patients. Notably, some patients remained sensitive to chemotherapy. Overall prognosis may be related to the type of disease and other cytogenetic abnormalities. Systemic cytogenetic and molecular studies are needed to make accurate diagnoses. Additional cases need to be accumulated and summarized to better understand these diseases.
Keywords: T-lymphoblastic lymphoma/leukemia, acute myeloid leukemia, myeloid sarcoma, SET-CAN , ASCT, prognosis