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

  • Published online on: February 12, 2020     https://doi.org/10.3892/ol.2020.11387
  • Pages: 2957-2962
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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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April-2020
Volume 19 Issue 4

Print ISSN: 1792-1074
Online ISSN:1792-1082

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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