Sait Sheila N J, Claydon Melinda A, Conroy Jeffrey M, Nowak Norma J, Barcos Maurice, Baer Maria R
Clinical Cytogenetics Laboratory, DNA Microarray and Genomics Facility, Departments of Pathology and Medicine, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA.
Cancer Genet Cytogenet. 2007 Sep;177(2):143-6. doi: 10.1016/j.cancergencyto.2007.05.021.
Reciprocal chromosomal translocations involving the MLL gene at chromosome region 11q23 are recurring cytogenetic abnormalities in both de novo and therapy-related acute myeloid leukemia (AML) and in acute lymphoblastic leukemia. We report a t(4;11)(p12;q23) with rearrangement of MLL and FRYL (also known as AF4p12), a human homolog to the furry gene of Drosophila, in an adult patient with therapy-related AML after fludarabine and rituximab therapy for small lymphocytic lymphoma and radiation therapy for breast carcinoma. To our knowledge, t(4;11)(p12;q23) has been reported in two previous patients, and MLL and FRYL rearrangement was demonstrated in one of them. Both of the previous patients had therapy-related leukemias after exposure to topoisomerase II inhibitors, whereas our patient had received cytotoxic therapy that did not include a topoisomerase II inhibitor. Thus, t(4;11)(p12;q23) with MLL and FRYL involvement represents a new recurring 11q23 translocation, to date seen only in therapy-related acute leukemias.
涉及染色体11q23区域MLL基因的相互染色体易位是初发和治疗相关急性髓系白血病（AML）以及急性淋巴细胞白血病中反复出现的细胞遗传学异常。我们报告了一名成年患者，其在接受氟达拉滨和利妥昔单抗治疗小淋巴细胞淋巴瘤以及乳腺癌放射治疗后发生治疗相关AML，存在t(4;11)(p12;q23)，伴有MLL和FRYL（也称为AF4p12）重排，FRYL是果蝇多毛基因的人类同源物。据我们所知，之前有两名患者报告过t(4;11)(p12;q23)，其中一名患者证实存在MLL和FRYL重排。之前的两名患者在接触拓扑异构酶II抑制剂后均发生了治疗相关白血病，而我们的患者接受的细胞毒性治疗不包括拓扑异构酶II抑制剂。因此，伴有MLL和FRYL参与的t(4;11)(p12;q23)代表一种新的反复出现的11q23易位，迄今为止仅在治疗相关急性白血病中见到。
