SET-NUP214

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Contributors

Daynna J. Wolff, PhD

Description

NUP214-SET is a fusion of the genes NUP214 (Nucleoporin 214kDa) and SET (SET Nuclear Proto-Oncogene), located at 9q34.13 and 9q34.11, respectively. The fusion has been described as resulting from a recurrent cryptic deletion, del(9)(q34.11q34.13) and a chromosomal translocation, t(9;9)(q34;q34) [5,6]. In T-cell acute lymphoblastic leukemia, the fusion has been shown to mediate elevated expression of HOXA cluster genes [7].

Tumor Types

T-cell Acute Lymphoblastic Leukemia/Lymphoma

Acute Myeloid Leukemia (single case report)

Prevalence

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Genes Involved / Domains Affected

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Diagnostic Testing

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Clinical Significance

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Therapeutics

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Links

References

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Rare: [8]

  1. ↑ Reference: Ann Clin Lab Sci. 2011 Summer;41(3):267-72. T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature. Lee SG1, Park TS, Cho SY, Lim G, Park GJ, Oh SH, Cho EH, Chong SY, Huh JY. PMID: 22075511 http://www.ncbi.nlm.nih.gov/pubmed/22075511
  2. ↑ Ann Hematol. 2012 Feb;91(2):193-201. doi: 10.1007/s00277-011-1289-x. Epub 2011 Jul 1.
  3. ↑ Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement. Chae H1, Lim J, Kim M, Park J, Kim Y, Han K, Lee S, Min WS. PMID: http://www.ncbi.nlm.nih.gov/pubmed/21720744 Oncol Lett. 2014 Sep; 8(3): 959–962. Published online 2014 Jun 18. doi: 10.3892/ol.2014.2263 PMCID: PMC4114590
  4. ↑ NUP214 fusion genes in acute leukemia (Review) MIN-HANG ZHOU and QING-MING YANG PMID: http://www.ncbi.nlm.nih.gov/pubmed/25120641
  5. ↑ SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines. Quentmeier H, Schneider B, Röhrs S, et al. J Hematol Oncol. 2009;2:3. PMID: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2636835/#B1
  6. ↑ Characterization of the translocation breakpoint sequences of two DEK-CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET-CAN fusion gene found in a case of acute undifferentiated leukemia. Genes Chromosomes Cancer. Von Lindern M, Breems D, van Baal S, Adriaansen H, Grosveld G. Genes Chromosomes Cancer. 1992;5:227–234. doi: 10.1002/gcc.2870050309. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1384675
  7. ↑ The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia. Van Vlierberghe, van Grotel M, Tchinda J, Lee C, Beverloo HB, van der Spek PJ, Stubbs A, Cools J, Nagata K, Fornerod M, Buijs-Gladdines J, Horstmann M, van Wering ER, Soulier J, Pieters R, Meijerink JP. Blood. 2008 May 1;111(9):4668-80. doi: 10.1182/blood-2007-09-111872. Epub 2008 Feb 25. PMID: http://www.ncbi.nlm.nih.gov/pubmed/18299449
  8. ↑ B-cell Lymphoid Leukemia Test Reference: Oncol Lett. 2016 Apr;11(4):2644-2650. Epub 2016 Feb 23. B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature. Zhu HH1, Zhao XS1, Qin YZ1, Lai YY1, Jiang H1 PMID:27073532
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