Height S E, Dainton M G, Kearney L, Swansbury G J, Matutes E, Dyer M J, Treleaven J G, Powles R L, Catovsky D
Academic Department of Haematology and Cytogenetics, Royal Marsden Hospital, London, United Kingdom.
Genes Chromosomes Cancer. 1994 Oct;11(2):136-9. doi: 10.1002/gcc.2870110210.
The human trithorax homolog gene (MLL) is directly involved in over 90% of cases of acute leukemia with abnormalities of 11q23. However, involvement of other genes at 11q23 both centromeric and telomeric of MLL has been identified in different subtypes of leukemia and lymphoma. We describe a case of acute myelomonocytic leukemia (AMML; FAB type M4) with t(10;11)(p13;q23) in which the breakpoint at 11q23 was centromeric to the MLL gene and distinct from the breakpoint seen in promyelocytic leukemias with t(11;17)(q23;q22), thus providing further evidence of heterogeneity of breakpoints in 11q23 in acute leukemia. Rearrangements of immunoglobulin (IG) and T-cell receptor (TCR) genes were also observed, with no immunophenotypic evidence for commitment to the lymphoid lineages, indicating that inappropriate activation of the recombinases may be a feature of this particular variant translocation.
人类三体同源基因（MLL）直接参与了超过90%的伴有11q23异常的急性白血病病例。然而，在白血病和淋巴瘤的不同亚型中，已发现在MLL着丝粒和端粒的11q23处有其他基因参与。我们描述了一例急性粒单核细胞白血病（AMML；FAB分型M4），其核型为t(10;11)(p13;q23)，其中11q23处的断点位于MLL基因的着丝粒侧，且与t(11;17)(q23;q22)的早幼粒细胞白血病中所见的断点不同，从而为急性白血病中11q23断点的异质性提供了进一步证据。还观察到免疫球蛋白（IG）和T细胞受体（TCR）基因重排，且无向淋巴系分化的免疫表型证据，表明重组酶的不适当激活可能是这种特殊变异易位的一个特征。
