<p><em>SET-CAN</em> Fusion Gene in Acute Leukemia and Myeloid Neoplasms: Report of Three Cases and a Literature Review</p>

Abstract

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.

Determining the Appropriate Treatment for T-Cell Acute Lymphoblastic Leukemia With SET-CAN/NUP214 Fusion: Perspectives From a Case Report and Literature Review

“…T-cell acute lymphoblastic leukemia (T-ALL) with SET-CAN/ NUP214 fusion was relatively rare; it is most often reported in case reports or small-size case series. By reviewing the literature, we found 84 T-ALL patients with SET-CAN/NUP214 (including this case) (1,(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25); the clinical characteristics are provided in Table 1. Sixty-six patients with detailed information are listed in Supplementary Table 4.…”

“…Flow cytometry (Figure 1B) showed that the blasts (P3 group, 92.1%) were mainly positive for CD7, CD38 and CD2; partially positive for CD117, cCD3, CD99, and CD5; weakly positive for CD34 and CD10; and negative for CD33, CD19, CD56, cMPO, cCD79a, CD1a, CD25, HLA-DR, CD15, CD13, cTdT, CD123, CD3, CD8, and CD4, indicating a diagnosis of early T-cell precursor (ETP)-ALL. Karyotyping analysis of the peripheral blood illustrated that the patient had a 46, XX, del(12) (p11) [19]/46,XX [1] karyotype [20] (Figure 1C). Reverse transcriptase (RT)-PCR covering 56 commonly detected fusion genes in leukemia (listed in Supplementary Table 1) performed on the bone marrow sample detected SET-CAN/NUP214 gene fusion.…”

“…Recurrent genetic abnormalities always provide important information about pathological mechanisms, prognosis and even treatment selections in acute leukemias, such as the PML/RAR and AML/ETO rearrangements in acute myeloid leukemia (AML). SET-CAN/NUP214 fusion is formed by cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13) ( 1 ). It is a recurrent event initially detected in a patient with acute undifferentiated leukemia (AUL) ( 2 ).…”

“…It is a recurrent event initially detected in a patient with acute undifferentiated leukemia (AUL) ( 2 ). Later, it may also be detected in patients with AML ( 3 ), B-ALL ( 4 ) or myeloid sarcoma ( 1 ), but the highest frequency is found in T-ALL ( 1 ). Knowledge about T-ALL with SET-CAN/NUP214 is limited.…”

Interstitial Deletions Generating Fusion Genes

“…In 2006, Rosati et al reported that a 2.5 Mbp deletion generated SET-NUP214 fusion in an AML-patient (274). Subsequent studies confirmed that the submicroscopic deletion did indeed lead to SET-CAN chimeras in leukemias (274)(275)(276)(277)(278)(279)(280)(281).…”