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Fusion of ZMYND8 and RELA genes in acute erythroid leukemia.

Panagopoulos I, Micci F, Thorsen J, Haugom L, Buechner J, Kerndrup G, Tierens A, Zeller B, Heim S - PLoS ONE (2013)

Bottom Line: Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation.RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript.Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation.

View Article: PubMed Central - PubMed

Affiliation: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. ioannis.panagopoulos@rr-research.no

ABSTRACT
Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation. RNA extracted from the BM was sequenced and analyzed for fusion transcripts using the software FusionMap. A ZMYND8-RELA fusion was ranked first. RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript. Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation. The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway.

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FISH using the BACs RP11-357P03 (FITC, green), RP11-365J23 (Texas Red, red) and RP11-701A18 (Spectrum Gold, yellow) for the localization of the fusion ZMYND8-RELA gene.A) The BACs RP11-357P03 (FITC) and RP11-365J23 (Texas Red) have moved to the q arm of der(20), whereas the probe RP11-701A18 (Spectrum Gold) had moved to the q arm of the derivative chromosome 11. B) Mapping position of the RP11-357P03, RP11-365J23 and RP11-701A18 in chromosome band 11p12. The localization of the fusion ZMYND8-RELA gene is between BACs RP11-365J23 and RP11-701A18.
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pone-0063663-g002: FISH using the BACs RP11-357P03 (FITC, green), RP11-365J23 (Texas Red, red) and RP11-701A18 (Spectrum Gold, yellow) for the localization of the fusion ZMYND8-RELA gene.A) The BACs RP11-357P03 (FITC) and RP11-365J23 (Texas Red) have moved to the q arm of der(20), whereas the probe RP11-701A18 (Spectrum Gold) had moved to the q arm of the derivative chromosome 11. B) Mapping position of the RP11-357P03, RP11-365J23 and RP11-701A18 in chromosome band 11p12. The localization of the fusion ZMYND8-RELA gene is between BACs RP11-365J23 and RP11-701A18.

Mentions: The BAC probes, retrieved from the Human “32K” BAC Re-Array library (BACPAC Resources, http://bacpac.chori.org/home.htm), were: RP11-702E03 for ZMYND8 (Figure 1D, Position: chr20:45194474-45379760; Band: 20q13.12; UCSC Genome Browser on Human May 2004 NCBI35/hg17 Assembly), CTD-2382C11 for RELA (Figure 1D, Position: chr11:65106839-65279190 on Human May 2004 NCBI35/hg17 Assembly) and RP11-357P03 and RP11-365J23 and RP11-701A18 for chromosome band 11p12 (Figure 2B). FISH was performed as described elsewhere [5], [6]


Fusion of ZMYND8 and RELA genes in acute erythroid leukemia.

Panagopoulos I, Micci F, Thorsen J, Haugom L, Buechner J, Kerndrup G, Tierens A, Zeller B, Heim S - PLoS ONE (2013)

FISH using the BACs RP11-357P03 (FITC, green), RP11-365J23 (Texas Red, red) and RP11-701A18 (Spectrum Gold, yellow) for the localization of the fusion ZMYND8-RELA gene.A) The BACs RP11-357P03 (FITC) and RP11-365J23 (Texas Red) have moved to the q arm of der(20), whereas the probe RP11-701A18 (Spectrum Gold) had moved to the q arm of the derivative chromosome 11. B) Mapping position of the RP11-357P03, RP11-365J23 and RP11-701A18 in chromosome band 11p12. The localization of the fusion ZMYND8-RELA gene is between BACs RP11-365J23 and RP11-701A18.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3646816&req=5

pone-0063663-g002: FISH using the BACs RP11-357P03 (FITC, green), RP11-365J23 (Texas Red, red) and RP11-701A18 (Spectrum Gold, yellow) for the localization of the fusion ZMYND8-RELA gene.A) The BACs RP11-357P03 (FITC) and RP11-365J23 (Texas Red) have moved to the q arm of der(20), whereas the probe RP11-701A18 (Spectrum Gold) had moved to the q arm of the derivative chromosome 11. B) Mapping position of the RP11-357P03, RP11-365J23 and RP11-701A18 in chromosome band 11p12. The localization of the fusion ZMYND8-RELA gene is between BACs RP11-365J23 and RP11-701A18.
Mentions: The BAC probes, retrieved from the Human “32K” BAC Re-Array library (BACPAC Resources, http://bacpac.chori.org/home.htm), were: RP11-702E03 for ZMYND8 (Figure 1D, Position: chr20:45194474-45379760; Band: 20q13.12; UCSC Genome Browser on Human May 2004 NCBI35/hg17 Assembly), CTD-2382C11 for RELA (Figure 1D, Position: chr11:65106839-65279190 on Human May 2004 NCBI35/hg17 Assembly) and RP11-357P03 and RP11-365J23 and RP11-701A18 for chromosome band 11p12 (Figure 2B). FISH was performed as described elsewhere [5], [6]

Bottom Line: Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation.RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript.Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation.

View Article: PubMed Central - PubMed

Affiliation: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. ioannis.panagopoulos@rr-research.no

ABSTRACT
Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation. RNA extracted from the BM was sequenced and analyzed for fusion transcripts using the software FusionMap. A ZMYND8-RELA fusion was ranked first. RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript. Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation. The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway.

Show MeSH
Related in: MedlinePlus