Ann Lab Med.  2019 Jul;39(4):403-405. 10.3343/alm.2019.39.4.403.

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

Affiliations
  • 1Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
  • 2Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.

Abstract

No abstract available.


MeSH Terms

Leukemia, Myeloid, Acute*

Figure

  • Fig. 1 Features of bone marrow aspirate smear and results of chromosomal analysis, FISH, and Sanger sequencing. (A) Bone marrow aspirate smear showing leukemic blasts comprising mostly myeloblasts (Wright-Giemsa stain, ×1,000). (B) Chromosomal analysis showing 59–90,XXYY,−1,−2,−5,−7,−7,−10,−13,−13,−16,−17,−18,−21[cp23]. (C) FISH analysis with a SET/NUP214 probe showing two yellow fusions, and two green and two red probes, suggesting either del(9)(q34.11q34.13) or t(9;9)(q34;q34). (D) FISH analysis with ABL1 probe showing two red (ABL1) and four green (BCR) signals. (E) Sanger sequence analysis of SET and NUP241.


Reference

1. Zhu HH, Zhao XS, Qin YZ, Lai YY, Jiang H. B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: a case report and review of the literature. Oncol Lett. 2016; 11:2644–2650. PMID: 27073532.
2. Lee SG, Park TS, Cho SY, Lim G, Park GJ, Oh SH, et al. T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature. Ann Clin Lab Sci. 2011; 41:267–272. PMID: 22075511.
3. Chae H, Lim J, Kim M, Park J, Kim Y, Han K, et al. Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del (9)(q34); SET-NUP214 rearrangement. Ann Hematol. 2012; 91:193–201. PMID: 21720744.
4. Ozbek U, Kandilci A, Bonten J, Boyd K, Franken P, Fodde R, et al. SET-CAN, the product of the t(9;9) in acute undifferentiated leukemia, causes expansion of early hematopoietic progenitors and hyperproliferation of stomach mucosa in transgenic mice. American J Pathol. 2007; 171:654–666.
5. Kim J, Lee SG, Song J, Kim SJ, Rha SY, Lee KA, et al. Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia. Cancer Genet Cytogenet. 2010; 201:73–80. PMID: 20682390.
6. Quentmeier H, Schneider B, Röhrs S, Romani J, Zaborski M, MacLeod RA, et al. SET-NUP214 fusion in acute myeloid leukemia-and T-cell acute lymphoblastic leukemia-derived cell lines. J Hematol Oncol. 2009; 2:3. PMID: 19166587.
7. Van Vlierberghe P, van Grotel M, Tchinda J, Lee C, Beverloo HB, van der Spek PJ, et al. The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia. Blood. 2008; 111:4668–4680. PMID: 18299449.
8. Rosati R, La Starza R, Barba G, Gorello P, Pierini V, Matteucci C, et al. Cryptic chromosome 9q34 deletion generates TAF-Iα/CAN and TAF-Iβ/CAN fusion transcripts in acute myeloid leukemia. Haematologica. 2007; 92:232–235. PMID: 17296573.
9. Zhou MH, Yang QM. NUP214 fusion genes in acute leukemia. Oncol Lett. 2014; 8:959–962. PMID: 25120641.
10. Abdelali RB, Roggy A, Leguay T, Cieslak A, Renneville A, Touzart A, et al. SET-NUP214 is a recurrent γδ lineage specific fusion transcript associated with cortico/chemoresistance in adult T-ALL. Blood. 2014; 123:1860–1863. PMID: 24449214.
Full Text Links
  • ALM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr