Ann Lab Med.  2014 Nov;34(6):478-480. 10.3343/alm.2014.34.6.478.

The First Korean Case of Childhood Acute Myeloid Leukemia with Inv(11)(p15q22)/NUP98-DDX10 Rearrangement: A Rare but Recurrent Genetic Abnormality

• Choi R
• Jang MA
• Yoo KH
• Lee ST
• Kim HJ
• Kim SH

• KMID: 2129577
• DOI: http://doi.org/10.3343/alm.2014.34.6.478

Abstract

No abstract available.

MeSH Terms

Asian Continental Ancestry Group/*genetics
Base Sequence
Bone Marrow Cells/metabolism/pathology
Child, Preschool
Chromosome Inversion/*genetics
*Chromosomes, Human, Pair 11
DEAD-box RNA Helicases/*genetics
Humans
Karyotyping
Leukemia, Myeloid, Acute/*diagnosis/genetics
Male
Nuclear Pore Complex Proteins/*genetics
Republic of Korea
DEAD-box RNA Helicases
Nuclear Pore Complex Proteins

Figure

• 

  Fig. 1 Karyotyping, reverse transcription (RT)-PCR, and sequence analyses of the NUP98-DDX10 fusion transcripts in the present case. (A) Giemsa-band karyotype with 400-band resolution showing inv(11)(p15q22). (B) RNA samples from the patient's leukemic cells were amplified by RT-PCR using NUP98 and DDX10 primers; molecular weight marker, 100-bp ladder (left); patient's results showing the 874-bp NUP98-DDX10 fusion transcripts (right). (C) Direct sequencing of the RT-PCR product from the patient's leukemic cells. Sequences adjacent to the junction are shown and exon 14 of NUP98 and exon 7 of DDX10 are indicated (type II fusion). The arrow indicates the junction points of the 2 genes.

Reference

1. Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N, et al. The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10. Blood. 1997; 89:3936–3944. PMID: 9166830.

2. Ikeda T, Ikeda K, Sasaki K, Kawakami K, Takahara J. The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts. Int J Hematol. 1999; 69:160–164. PMID: 10222653.

3. Nebral K, König M, Schmidt HH, Lutz D, Sperr WR, Kalwak K, et al. Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization. Haematologica. 2005; 90:746–752. PMID: 15951287.

4. Yamamoto M, Kakihana K, Kurosu T, Murakami N, Miura O. Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia. Cancer Genet Cytogenet. 2005; 157:104–108. PMID: 15721630.

5. Morerio C, Acquila M, Rapella A, Tassano E, Rosanda C, Panarello C. Inversion (11)(p15q22) with NUP98-DDX10 fusion gene in pediatric acute myeloid leukemia. Cancer Genet Cytogenet. 2006; 171:122–125. PMID: 17116492.

6. Romana SP, Radford-Weiss I, Ben Abdelali R, Schluth C, Petit A, Dastugue N, et al. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique. Leukemia. 2006; 20:696–706. PMID: 16467868.

7. Gorello P, Nofrini V, Brandimarte L, Pierini V, Crescenzi B, Nozza F, et al. Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia. Cancer Genet. 2013; 206:92–96. PMID: 23522748.

8. Hollink IH, van den Heuvel-Eibrink MM, Arentsen-Peters ST, Pratcorona M, Abbas S, Kuipers JE, et al. NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern. Blood. 2011; 118:3645–3656. PMID: 21813447.

9. Yassin ER, Abdul-Nabi AM, Takeda A, Yaseen NR. Effects of the NUP98-DDX10 oncogene on primary human CD34+ cells: role of a conserved helicase motif. Leukemia. 2010; 24:1001–1011. PMID: 20339440.

10. Takeda A, Yaseen NR. Nucleoporins and nucleocytoplasmic transport in hematologic malignancies. Semin Cancer Biol. 2014; 27:3–10. PMID: 24657637.