A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy

Jeong, In Du; An, Gyu Dae; Lim, Hyeon Ho; Woo, Kwang‐Sook; Kim, Kyeong-Hee; Kim, Jeong Man; Lee, Ji Hyun; Han, Jin Yeong

doi:10.3343/alm.2019.39.4.403

Cited by 4 publications

(4 citation statements)

References 9 publications

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“…Here we collected 6 studies published in English that included 7 patients, 3 were diagnosed with AML, 2 with AUL (2/7), 1 with MS (1/7), and 1 presented with mixed phenotype acute leukemia (MPAL, 1/7). [ 3 , 6 , 9 , 10 , 22 , 23 ] Two other cases diagnosed with AML were excluded because of a lack detailed information. [ 24 ] The MS patient was female, and the 6 leukemia patients were male, which was similar to the female:male ratio observed for T-ALLs with the SET-CAN/NUP214 fusion gene.…”

Section: Resultsmentioning

confidence: 99%

The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review

Wang

Zhan²,

Lu³

et al. 2022

Medicine

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Background: The SET-CAN/NUP214 fusion gene resulting from chromosomal del(9)(q34.11q34.13) or t(9;9) (q34;q34) has been found in T-cell acute lymphoblastic leukemia (T-ALL), B-cell acute lymphoblastic leukemia (B-ALL), acute myeloid leukemia (AML) and myeloid sarcoma (MS). Furthermore, the SET-CAN/NUP214 fusion gene has been found in the T-ALL cell line LOUCY and the AML line MEGAL. The common features of these cases are insensitivity to chemotherapy and poor prognosis. We reviewed the characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies.Methods: This systematic literature search was conducted using the PubMed, Web of Science, Embase, and Cochrane Library databases. With the inclusion and exclusion criteria, we summarized all of the papers and performed a statistical analyses.Results: In general, the SET-CAN/NUP214 fusion gene is very rare in adult acute leukemia, more frequently found in T-ALL than in other types of leukemia, and more often in males. Flow cytometry data indicated that the markers CD34, CD33, CD13, and CD7 were common in SET-CAN/NUP214 positive acute leukemia, including ALL. Fluorescence in situ hybridization and arrays are important methods for detecting the fusion gene in newly diagnosed patients and can detect chromosomal del(9)(q34) will be detected. The chromosomal karyotype may be normal or complex, and, in terms of survival analysis, transplantation results in a better prognosis than chemotherapy alone.Conclusions and implications of key findings: The presence of SET-CAN/NUP214 fusion gene may be a Minimal Residual Disease of early recurrence, and it might be a poor indicator of outcome.Limitations: The mechanism, clinical characteristics, therapy and prognosis of the SET-CAN/NUP214 fusion gene in hematological malignancies require further research.

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Section: Resultsmentioning

confidence: 99%

The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review

Wang

Zhan²,

Lu³

et al. 2022

Medicine

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“…25 While the majority of the adult patients experienced T-ALL, other subtypes of acute leukemia with the SET-CAN fusion gene are summarized in Table 2. Here, we collected seven studies 4,5,7,8,[26][27][28] including nine adult patients with the SET-CAN fusion gene. Three patients were diagnosed with AUL, four patients were diagnosed with AML and the other two were diagnosed with B-ALL.…”

Section: Discussionmentioning

confidence: 99%

“…7 It is generally believed that the prognosis of such patients is poor and that these patients are insensitive to traditional chemotherapy and corticosteroids, so hematopoietic stem cell transplantation (HSCT) may improve the prognosis of such patients. 8,9 Here, we report three patients carrying the SET-CAN fusion gene who were diagnosed with T-ALL, AML and myeloid sarcoma (MS), respectively. Furthermore, to the best of our knowledge, no cases of myeloid sarcoma carrying the SET-CAN fusion gene have been reported thus far.…”

Section: Introductionmentioning

confidence: 99%

SET-CAN Fusion Gene in Acute Leukemia and Myeloid Neoplasms: Report of Three Cases and a Literature Review

Zhang¹,

Zhang²,

Li³

et al. 2020

OTT

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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.

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“…Previous studies have also suggested that SETNUP214-positive AL patients are associated with a poor prognosis. [ 3 , 10 ] However, the number of reported cases with SET-NUP214 fusion gene was very limited. There are no specific clinical studies to analyze the clinical significance of SET-NUP214 fusion gene for monitoring MRD status and predicting relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT).…”

Section: Introductionmentioning

confidence: 99%

Prognostic significance of SET-NUP214 fusion gene in acute leukemia after allogeneic hematopoietic stem cell transplantation

et al. 2020

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The SET nuclear proto-oncogene (SET)-nucleoporin (NUP) 214 fusion gene (SET-NUP214) is a rare leukemia fusion gene. Due to the limited number of samples with SET-NUP214 fusion gene in previous studies, the significance of SET-NUP214 for measurable residual disease (MRD) monitoring in patients with acute leukemia (AL) is still unclear. Our study aimed to observe the dynamic changes in SET-NUP214 expression before and after allogeneic hematopoietic stem cell transplantation (allo-HSCT), and analyzed whether SET-NUP214 could be used to evaluate MRD status. Our study included 24 AL patients who were newly diagnosed with SET-NUP214 fusion gene and they all received allo-HSCT. Their MRD was evaluated by monitoring SET-NUP214 fusion gene and leukemia-associated immunophenotype (LAIP). The median follow-up time was 501 days (56–2208 days). Of the enrolled patients, 6 (25%) patients died, including 3 (12.5%) patients died of leukemia relapse. Total 5 (20.8%) patients experienced hematological relapse at a median of 225 days (56–1057 days) post-transplantation. The SET-NUP214 median expression level at diagnosis was 405.1% (14.6%–1482.4%). SET-NUP214 gene expression generally became positive prior to flow cytometry results. In addition, the Kaplan-Meier survival curves analysis showed that those who had SET-NUP214 positive (SET-NUP214+) post-transplantation had a higher 2-year cumulative incidence of leukemia relapse (CIR) of 43.7 ± 18.8% ( P < .05). However, there was no significant difference between SET-NUP214 positive and SET-NUP214 negative patients with regard to their 2-year overall survival (OS) (82.5 ± 11.3 vs 64.6 ± 17.5%, respectively, P = .271). ROC curve analysis turned out that the area under the ROC curve (AUC) was 0.916 (95% CI: 0.784–1.0; P = .005). In conclusion, SET-NUP214 fusion gene determined by real-time quantitative reverse transcriptase polymerase chain reaction (RQ-PCR) could be used to evaluate MRD status after allo-HSCT. Patients with positive SET-NUP214 expression after transplantation will have a poor prognosis.

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A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy

Cited by 4 publications

References 9 publications

The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review

The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review

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

Prognostic significance of SET-NUP214 fusion gene in acute leukemia after allogeneic hematopoietic stem cell transplantation

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