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Case Report

Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report

  • Authors:
    • Moneeb A.K. Othman
    • Marina Đurišić
    • Gordana Samardzija
    • Dragana Vujić
    • Nina Lakic
    • Zeljko Zecevic
    • Fawaz Al‑Shaheri
    • Rouben Aroutiounian
    • Joana B. Melo
    • Isabel M. Carreira
    • Britta Meyer
    • Thomas Liehr
  • View Affiliations / Copyright

    Affiliations: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D‑07747 Jena, Germany, Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, 11070 Belgrade, Serbia, Medical School, University of Belgrade, 11000 Belgrade, Serbia, Department of Genetics and Cytology, Yerevan State University, 0025 Yerevan, Armenia, Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, 3000‑354 Coimbra, Portugal, ZytoVision, D‑27572 Bremerhaven, Germany
  • Pages: 2957-2962
    |
    Published online on: February 12, 2020
       https://doi.org/10.3892/ol.2020.11387
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Abstract

B‑cell acute lymphoblastic leukemia (B‑ALL) is a hematopoietic malignancy characterized by overproduction of immature B‑lymphoblasts. B‑ALL is the most common pediatric tumor and remains the leading cause of mortality in children and adolescents. Molecular and cytogenetic analyses of B‑ALL revealed recurrent genetic and structural genomic alterations which are routinely applied for diagnosis, prognosis and choice of treatment regimen. The present case report describes a 4‑year‑old female diagnosed with B‑ALL. GTG‑banding at low resolution revealed an abnormal clone with 46,XX,?t(X;19)(q13;q13.3),der(9) besides normal cells. Molecular cytogenetics demonstrated a balanced translocation between chromosomes 16 and 19, and an unbalanced translocation involving chromosomes 5 and 9. A locus‑specific probe additionally identified that the FUS gene in 16p11.2 was split and its 5' region was translocated to subband 19q13.33, whereas the 3' region of the FUS gene remained on the derivative chromosome 16. Overall, this complex karyotype included four different chromosomes and five break events. Further analyses, including array‑comparative genomic hybridization, additionally revealed biallelic deletion of the tumor suppressor genes CDKN2A/B, and deletion of the NR3C1 and VPREB1 genes. The patient passed away under treatment due to sepsis.
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Copy and paste a formatted citation
Spandidos Publications style
Othman MA, Đurišić M, Samardzija G, Vujić D, Lakic N, Zecevic Z, Al‑Shaheri F, Aroutiounian R, Melo JB, Carreira IM, Carreira IM, et al: Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report. Oncol Lett 19: 2957-2962, 2020.
APA
Othman, M.A., Đurišić, M., Samardzija, G., Vujić, D., Lakic, N., Zecevic, Z. ... Liehr, T. (2020). Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report. Oncology Letters, 19, 2957-2962. https://doi.org/10.3892/ol.2020.11387
MLA
Othman, M. A., Đurišić, M., Samardzija, G., Vujić, D., Lakic, N., Zecevic, Z., Al‑Shaheri, F., Aroutiounian, R., Melo, J. B., Carreira, I. M., Meyer, B., Liehr, T."Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report". Oncology Letters 19.4 (2020): 2957-2962.
Chicago
Othman, M. A., Đurišić, M., Samardzija, G., Vujić, D., Lakic, N., Zecevic, Z., Al‑Shaheri, F., Aroutiounian, R., Melo, J. B., Carreira, I. M., Meyer, B., Liehr, T."Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report". Oncology Letters 19, no. 4 (2020): 2957-2962. https://doi.org/10.3892/ol.2020.11387
Copy and paste a formatted citation
x
Spandidos Publications style
Othman MA, Đurišić M, Samardzija G, Vujić D, Lakic N, Zecevic Z, Al‑Shaheri F, Aroutiounian R, Melo JB, Carreira IM, Carreira IM, et al: Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report. Oncol Lett 19: 2957-2962, 2020.
APA
Othman, M.A., Đurišić, M., Samardzija, G., Vujić, D., Lakic, N., Zecevic, Z. ... Liehr, T. (2020). Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report. Oncology Letters, 19, 2957-2962. https://doi.org/10.3892/ol.2020.11387
MLA
Othman, M. A., Đurišić, M., Samardzija, G., Vujić, D., Lakic, N., Zecevic, Z., Al‑Shaheri, F., Aroutiounian, R., Melo, J. B., Carreira, I. M., Meyer, B., Liehr, T."Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report". Oncology Letters 19.4 (2020): 2957-2962.
Chicago
Othman, M. A., Đurišić, M., Samardzija, G., Vujić, D., Lakic, N., Zecevic, Z., Al‑Shaheri, F., Aroutiounian, R., Melo, J. B., Carreira, I. M., Meyer, B., Liehr, T."Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B‑cell acute lymphoblastic leukemia: A case report". Oncology Letters 19, no. 4 (2020): 2957-2962. https://doi.org/10.3892/ol.2020.11387
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