This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Ono, R. Articles by Hayashi, Y. Search for Related Content PubMed PubMed Citation Articles by Ono, R. Articles by Hayashi, Y.

SEPTIN6, a Human Homologue to Mouse Septin6, Is Fused to MLL in Infant Acute Myeloid Leukemia with Complex Chromosomal Abnormalities Involving 11q23 and Xq24¹

Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo, 113-8655 [R. O., T. Taki, T. Take, H. K., M. K., Y. H.]; Third Department of Internal Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8655 [M. T.]; Department of Pediatrics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, 594-1101 [T. O., K. K.]; and Division of Hematology and Oncology, Saitama Children’s Medical Center, Saitama, 339-8551 [R. H.] Japan

t(X;11) is a recurrent translocation in pediatric acute myeloid leukemia (AML). We showed that the MLL gene on 11q23 was fused to the SEPTIN6 gene on Xq24, a human homologue to mouse Septin6, in three de novo infant AML with complex chromosomal abnormalities involving 11q23 and Xq22–24. SEPTIN6 consisted of at least 12 exons and was predicted to encode at least two types of proteins by alternative splicing. Expression of 2.3-, 3.1-, and 4.6-kb SEPTIN6 transcripts was simultaneously detected in fetal lung, liver, and brain, in all of the adult tissues except brain, and in acute lymphoblastic leukemia and AML cell lines. However, the expression of an 2.7-kb transcript was detected alone in fetal heart and adult brain. The SEPTIN6 protein is homologous to septin family members including CDCREL1 and AF17q25/MSF, which generate fusion products with MLL. The MLL-SEPTIN6 fusion proteins contain almost the entire septin protein, similar to MLL-CDCREL1 and MLL-AF17q25/MSF. Notably, all three of the patients were diagnosed with M1 or M2. Combined present results and literatures suggest that AML with the MLL-SEPTIN6 fusion gene is a subset of infant AML, which differentiate into the myeloid lineage, although AML with other MLL fusion genes is capable of differentiating into the myelomonocytic or monocytic lineage.

This article has been cited by other articles:

				N. Cerveira, F. Micci, J. Santos, M. Pinheiro, C. Correia, S. Lisboa, S. Bizarro, L. Norton, A. Glomstein, A. E. Asberg, et al. Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctions Haematologica, July 1, 2008; 93(7): 1076 - 1080. [Abstract] [Full Text] [PDF]

				S. Senese, K. Zaragoza, S. Minardi, I. Muradore, S. Ronzoni, A. Passafaro, L. Bernard, G. F. Draetta, M. Alcalay, C. Seiser, et al. Role for Histone Deacetylase 1 in Human Tumor Cell Proliferation Mol. Cell. Biol., July 1, 2007; 27(13): 4784 - 4795. [Abstract] [Full Text] [PDF]

				A. Miremadi, M. Z. Oestergaard, P. D.P. Pharoah, and C. Caldas Cancer genetics of epigenetic genes Hum. Mol. Genet., April 15, 2007; 16(R1): R28 - R49. [Abstract] [Full Text] [PDF]

				R. Ono, M. Ihara, H. Nakajima, K. Ozaki, Y. Kataoka-Fujiwara, T. Taki, K.-i. Nagata, M. Inagaki, N. Yoshida, T. Kitamura, et al. Disruption of Sept6, a Fusion Partner Gene of MLL, Does Not Affect Ontogeny, Leukemogenesis Induced by MLL-SEPT6, or Phenotype Induced by the Loss of Sept4 Mol. Cell. Biol., December 15, 2005; 25(24): 10965 - 10978. [Abstract] [Full Text] [PDF]

				J. Libura, D. J. Slater, C. A. Felix, and C. Richardson Therapy-related acute myeloid leukemia-like MLL rearrangements are induced by etoposide in primary human CD34+ cells and remain stable after clonal expansion Blood, March 1, 2005; 105(5): 2124 - 2131. [Abstract] [Full Text] [PDF]

				R. Ono, T. Taki, T. Taketani, M. Taniwaki, H. Kobayashi, and Y. Hayashi LCX, Leukemia-associated Protein with a CXXC Domain, Is Fused to MLL in Acute Myeloid Leukemia with Trilineage Dysplasia Having t(10;11)(q22;q23) Cancer Res., July 15, 2002; 62(14): 4075 - 4080. [Abstract] [Full Text] [PDF]