EPS1- fuusiogeeni, uusi harvinainen vastasyntyneen leukemiamuoto

Uuden leukemialajin havaitseminen

Leukemia. 2006 Sep;20(9):1566-71. Epub 2006 Jul 6.

Establishment of a new human acute monocytic leukemia cell line TZ-1 with t(1;11)(p32;q23) and fusion gene MLL-EPS15.

Sagawa M¹, Shimizu T, Shimizu T, Awaya N, Mitsuhashi T, Ikeda Y, Okamoto S, Kizaki M.

Human leukemia cell lines are of great value in investigating basic and applied aspects of cell biology and clinical medicine. There have been 37 leukemia cell lines carrying 11q23 translocation and MLL rearrangements; however, cell lines harboring with t(1;11)(p32;q23) have not been established. We report here for the first time a new acute monocytic leukemia (AMoL) cell line with t(1;11)(p32;q23), designated TZ-1, and herein describe its biological characteristics. Mononuclear cells isolated from the ascites from a patient with AMoL (French-American-British classification; acute myeloid leukemia M5a) were isolated and passaged by liquid culture medium for a year. TZ-1 cells revealed typical monocytic features in morphology and had a t(1;11)(p32;q23) translocation. The immunoprofiling as determined by flow cytometry showed that TZ-1 cells are positive for myeloid and monocytic markers with lymphoid-associated markers. Fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses revealed MLL-EPS15 fusion transcript and protein. Taken together, these results suggest that TZ-1 is a new monocytic leukemia cell line with t(1;11) translocation and fusion gene MLL-EPS15. The established cell line, TZ-1, could provide a valuable model in the analysis of the pathogenesis of MLL-EPS15-positive leukemia and in the development of new agents for this type of leukemia

MLL- EPS15 Fuusio geeni harvinaisessa lastenleukemiassa t(1;11)(p32;q23)

Oncogene. 1994 Apr;9(4):1039-45.

A novel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL.

Bernard OA¹, Mauchauffe M, Mecucci C, Van den Berghe H, Berger R.

Abstract

Most of the translocations affecting the chromosome band 11q23, frequently seen in human acute leukemias (ALL), involve a restricted area of the HRX gene.
 We have characterized two t(1;11)(p32;q11) transl ocations which fuse the HRX gene to a novel gene, AF-1p on chromosome 1p32, in two myeloid leukemias.
The der (11) chromosome expresses the 1368 N-terminal amino acids of HRX, including the AT-hook, snRNP and methyltransferase similarities, fused to almost all the AF-1p product. The predicted wild type AF-1p product is a 98 kDa acidic protein which does not exhibit similarity to the AF-4, AF-9 and ENL gene products. It is highly similar to the murine eps 15 gene product, which encodes a cytoplasmic phosphoprotein. Our data indicate that AF-1p defines another class of genes fused to HRX in 11q23 abnormalities.
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