Quigley Denise I, Wolff Daynna J
Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.
Cancer Genet Cytogenet. 2006 Jul 1;168(1):77-9. doi: 10.1016/j.cancergencyto.2006.02.004.
Translocations involving the MLL gene at 11q23 have been implicated in acute lymphoblastic leukemia (ALL), as well as acute myeloid leukemia (AML). Such translocations result in gain of function fusion proteins that drive cell proliferation. Except in cases of T-cell ALL, MLL rearrangement is typically associated with a poor prognosis. We report a case of T-cell ALL with a t(11;19)(q23;p13.3) and deletion of the other chromosome 11 homolog at band q23. Fluorescence in situ hybridization (FISH) analyses confirmed involvement of the MLL loci in both the translocation and deletion. This case is unique in that deletions of 11q23 reported in ALL generally do not involve MLL. We are unaware of a previous report showing rearrangement of the MLL loci on both chromosome 11 homologues.
涉及11q23处MLL基因的易位已被证实与急性淋巴细胞白血病（ALL）以及急性髓系白血病（AML）有关。此类易位会导致功能获得性融合蛋白的产生，从而驱动细胞增殖。除了T细胞ALL病例外，MLL重排通常与预后不良相关。我们报告了1例伴有t(11;19)(q23;p13.3)且11号染色体另一条同源染色体q23带缺失的T细胞ALL病例。荧光原位杂交（FISH）分析证实MLL基因座参与了易位和缺失。该病例的独特之处在于，ALL中报道的11q23缺失通常不涉及MLL。我们不知道之前有报告显示两条11号染色体同源染色体上的MLL基因座均发生重排。
