A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL

Cancer Genetics and Cytogenetics
Servi J C StevensJannie W H Janssen

Abstract

A 55-year-old man sought care for aggressive acute lymphoblastic leukemia (ALL), which developed 8 years after he had received chemotherapeutic treatment for nephrotic syndrome. The sole cytogenetic abnormality observed in bone marrow-derived metaphases was a t(4;11)(q21;q23), which is a frequently occurring translocation in ALL. However, subsequent reverse transcriptase-polymerase chain reaction for the expected mixed lineage leukemia [trithorax homolog, Drosophila] (MLL)-AFF1 fusion transcript was negative. Further fluorescence in situ hybridization (FISH) analysis narrowed the 4q21 breakpoint down to a 250-kb region proximal of AFF1. This comprised four genes, of which septin11 (SEPT11) was further analyzed. Reverse transcriptase-polymerase chain reaction revealed expression of a chimeric MLL-SEPT11 transcript, thus identifying what is to our knowledge a hitherto undescribed translocation in ALL. Sequence analysis of cDNA showed in-frame fusion of MLL exon 11 to SEPT11 exon 2. This MLL-SEPT11 fusion is cytogenetically indistinguishable from the recurrent t(4;11)(q21;q23). Thus, it is crucial to characterize cytogenetic aberrations in leukemia by molecular methods, even in cases where a known recurrent translocation is presum...Continue Reading

References

Oct 3, 2003·Cancer Cell·Mary Ellen MartinJay L Hess
May 15, 2008·Nature Reviews. Molecular Cell Biology·Christine S WeirichYves Barral
Mar 6, 2009·Leukemia·C MeyerR Marschalek

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Citations

Jul 1, 2011·Biological Chemistry·Nuno CerveiraManuel R Teixeira
Jul 12, 2011·Biological Chemistry·Diana ConnollyCristina Montagna
Jan 13, 2018·SAGE Open Medical Case Reports·Shaimaa ElzamlyAlireza Torabi
Jul 2, 2020·International Journal of Oral Science·Qingyue XiaoChenchen Zhou

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