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Rolf Marschalek 대한진단검사의학회 2016 Annals of Laboratory Medicine Vol.36 No.2
Chromosomal translocations of the human mixed-lineage leukemia (MLL) gene have been analyzed for more than 20 yr at the molecular level. So far, we have collected about 80 direct MLL fusions (MLL-X alleles) and about 120 reciprocal MLL fusions (X-MLL alleles). The reason for the higher amount of reciprocal MLL fusions is that the excess is caused by 3-way translocations with known direct fusion partners. This review is aiming to propose a solution for an obvious problem, namely why so many and completely different MLL fusion alleles are always leading to the same leukemia phenotypes (ALL, AML, or MLL). This review is aiming to explain the molecular consequences of MLL translocations, and secondly, the contribution of the different fusion partners. A new hypothesis will be posed that can be used for future research, aiming to find new avenues for the treatment of this particular leukemia entity.
Oh, Se Jin,Park, Tae Sung,Lee, Jin Young,Mun, Yeung Chul,Seong, Chu Myong,Marschalek, Rolf,Meyer, Claus,Chung, Wha Soon,Huh, Jungwon S. Karger AG 2013 Acta haematologica Vol.130 No.3
<P>Abstract</P><P>No abstract available</P>
Lee, Sang-Guk,Park, Tae Sung,Yang, John Jeongseok,Oh, Seung Hwan,Cho, Eun Hae,Lee, Sanggyu,Oh, Doyeun,Huh, Ji Young,Marschalek, Rolf,Meyer, Claus S. Karger AG 2012 Acta haematologica Vol.128 No.3
<P>Abstract</P><P>More than 70 different mixed lineage leukemia <I>(MLL)</I> rearrangements involving 11q23 have been molecularly characterized in acute leukemia. Among these, the <I>MLLT11</I> gene is highly unique as <I>MLL</I> fusion partner because the entire open reading frame is usually fused in-frame to the N-terminal portion of the <I>MLL</I> gene. By using molecular genetic methods, we identified the chromosomal fusion site within <I>MLL</I> exon 10 sequences which were fused to the <I>MLLT11</I> intron 1 sequences. This unusual break site results in the creation of two in-frame <I>MLL</I>-<I>MLLT11</I> fusion transcripts in this acute myeloid leukemia patient with t(1;11)(q21;q23). One fusion transcript represents a normal splice product, while the other contains intronic sequences and a cryptic splice event in order to generate an intact fusion transcript. We also reviewed all published articles which have reported t(1;11)(q21;q23) in myeloid or lymphoid neoplasm and attempted to summarize these published data. Of interest, pediatric patients displayed a significant larger portion of unique balanced translocations (n = 40), while complex karyotypes were less often identified (n = 12). Vice versa, in adult leukemia patients, complex karyotypes (n = 5) were more frequent than unique balanced translocations (n = 2).</P><P>Copyright © 2012 S. Karger AG, Basel</P>
Yang, John Jeongseok,Park, Tae Sung,Choi, Jong Rak,Park, Seo-Jin,Cho, Sun Young,Jun, Kyung Ran,Kim, Hye Ran,Lee, Jeong Nyeo,Oh, Seung Hwan,Lee, Sanggyu,Kim, Bomi,Marschalek, Rolf,Meyer, Claus S. Karger AG 2012 Acta haematologica Vol.127 No.2
<P>Abstract</P><P>No abstract available</P><P>Copyright © 2010 S. Karger AG, Basel</P>