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Expression of the novel NUP98/PSIP1 fusion transcripts in myelodysplastic syndrome with t(9;11)(p22;p15)
Author(s) -
Yamamoto Katsuya,
Nakamachi Yuji,
Yakushijin Kimikazu,
Funakoshi Yohei,
Okamura Atsuo,
Kawano Seiji,
Matsuoka Hiroshi,
Minami Hironobu
Publication year - 2012
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2011.01736.x
Subject(s) - exon , biology , myeloid leukemia , fusion gene , chromosomal translocation , fusion transcript , myelodysplastic syndromes , cancer research , fusion protein , microbiology and biotechnology , myeloid , bone marrow , gene , genetics , immunology , recombinant dna
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.