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http://purl.uniprot.org/citations/22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22103895http://www.w3.org/2000/01/rdf-schema#comment"

Objectives

The t(9;11)(p22;p15) is a very rare but recurrent translocation in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) blast crisis. The translocation results in a fusion gene between NUP98 at 11p15 and PSIP1 encoding two transcriptional coactivators, p52 and p75, at 9p22. Here, we describe the first case of myelodysplastic syndrome (MDS) with t(9;11)(p22;p15).

Patient

A 64-yr-old woman presented pancytopenia, trilineage dysplasia, and 9.2% blasts in the bone marrow, indicating the diagnosis of MDS.

Results

G-banding and spectral karyotyping showed 46,XX,t(9;11)(p22;p15)[20]. Reverse transcription-polymerase chain reaction (RT-PCR) and nucleotide sequencing detected four types of NUP98/PSIP1-p52 and two types of NUP98/PSIP1-p75 fusion transcripts. Essentially, the NUP98 exon 12 or exon 11 by alternative splicing was fused in-frame with the PSIP1 exon 8. Real-time quantitative (RQ) PCR for NUP98/PSIP1/GAPDH demonstrated a 4-log decrease after cord blood transplantation and a 2-log increase at relapse.

Conclusions

The fusion genes combining NUP98 exon 11/12 with PSIP1 exon 8, which have never been detected in other AML/CML cases, may be implicated in the pathogenesis of MDS. Furthermore, RQ-PCR for NUP98/PSIP1 could be useful to monitor minimal residual disease."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.org/dc/terms/identifier"doi:10.1111/j.1600-0609.2011.01736.x"xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Kawano S."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Matsuoka H."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Yamamoto K."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Minami H."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Funakoshi Y."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Okamura A."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Yakushijin K."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/author"Nakamachi Y."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/date"2012"xsd:gYear
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/name"Eur J Haematol"xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/pages"244-248"xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/title"Expression of the novel NUP98/PSIP1 fusion transcripts in myelodysplastic syndrome with t(9;11)(p22;p15)."xsd:string
http://purl.uniprot.org/citations/22103895http://purl.uniprot.org/core/volume"88"xsd:string
http://purl.uniprot.org/citations/22103895http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/22103895
http://purl.uniprot.org/citations/22103895http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/22103895
http://purl.uniprot.org/uniprot/#_P52948-mappedCitation-22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22103895
http://purl.uniprot.org/uniprot/#_A0A142I7X2-mappedCitation-22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22103895
http://purl.uniprot.org/uniprot/#_B4DWF8-mappedCitation-22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22103895
http://purl.uniprot.org/uniprot/#_A8KA17-mappedCitation-22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22103895
http://purl.uniprot.org/uniprot/#_Q05CM9-mappedCitation-22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22103895
http://purl.uniprot.org/uniprot/#_L8E926-mappedCitation-22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22103895
http://purl.uniprot.org/uniprot/#_Q8N4N4-mappedCitation-22103895http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22103895
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