ArticleInternational journal of hematology2008
A variant-type MLL/SEPT9 fusion transcript in adult de novo acute monocytic leukemia (M5b) with t(11;17)(q23;q25).
Article in International journal of hematology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 22 citations in OpenAlex.
- Structure and function of Septin 9 and its role in human malignant tumors.World journal of gastrointestinal oncology · 2020Review
- Non-acute promyelocytic leukemia variant, acute myeloid leukemia with translocation (11;17).Clinical case reports · 2019Article
- A case ofCold Spring Harbor molecular case studies · 2018Article
- Advance in plasma SEPT9 gene methylation assay for colorectal cancer early detection.World journal of gastrointestinal oncology · 2018Review
- Bioinformatic prediction and functional characterization of human KIAA0100 gene.Journal of pharmaceutical analysis · 2017Article
- The Relationship between the Methylated Septin-9 DNA Blood Test and Stool Occult Blood Test for Diagnosing Colorectal Cancer in Taiwanese People.Journal of clinical laboratory analysis · 2017Article
- Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay.PloS one · 2008Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
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Abstract
As a result of recurrent chromosomal translocations in acute leukemias, the mixed-lineage-leukemia (MLL) gene fuses with a variety of partner genes, which include several members of the septin gene family. SEPT9 is a very rare but recurrent fusion partner of MLL, and has recently been implicated in the oncogenesis of various malignancies. Herein, we report a case of de novo acute monocytic leukemia (M5b) with t(11;17)(q23;q25). MLL involvement was revealed by fluorescent in situ hybridization (FISH) analysis, and an MLL/SEP9 fusion transcript was detected by RT-PCR. Sequencing analysis further showed that, in contrast to originally reported cases, MLL exon 8 was fused not with SEPT9 exon 3 but with exon 2, which codes for the unique N-terminal region of the SEPT9_v1 isoform, the region implicated in the regulation of gene expression and cell proliferation. We did not detect any mutation of FLT3, which was expressed at a relatively low level in the leukemic cells. Relapsing after a very short complete remission, the leukemia progressed rapidly and became fatal in spite of intensive therapies including hematopoietic stem cell transplantation. It is thus suggested that, in common with the original MLL/SEPT9 cases, monocytic differentiation and a poor prognosis may also be associated with acute myeloid leukemia with the variant MLL/SEPT9 fusion transcript.
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