Rare t(1;11)(q23;pl5) in therapy-related myelodysplastic syndrome evolving into acute myelomonocytic leukemia: a case report and review of the literature
Rare t(1;11)(q23;pl5) in therapy-related myelodysplastic syndrome evolving into acute myelomonocytic leukemia: a case report and review of the literature
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DOI：
10.1016/j.cancergencyto.2007.06.012
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发表时间：
2007-10-01
影响因子：
--
通讯作者：
Schreck, Rhona
中科院分区：
文献类型：
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作者：
Zhang, Ling;Alsabeh, Randa;Schreck, Rhona
平衡的染色体重排是接受拓扑异构酶11抑制剂治疗的患者发生的治疗相关白血病的标志。其中许多重排涉及重复的染色体位点和相关基因(11q23/MLL、21q22.3/AML1和11p15/NUP98)，它们可以与各种配对基因相互作用。一种这样的重排是罕见的t(1；11)(q23；p15)，它涉及同源框基因PMXI(PRRXI)和NUP98的并置。我们报告另一例t(1；11)患者，在多形性脂肪肉瘤治疗后出现骨髓增生异常综合征(MDS)。随着时间的推移，患者的疾病进展为急性髓-单核细胞白血病，并有克隆进化的细胞遗传学证据。据我们所知，这是第一例表现为孤立t(1；11)(q23；p15)的骨髓增生异常综合征的患者，该综合征演变为与治疗相关的急性髓系白血病(t-AML)。这例患者是第三例报道的这种细胞遗传学重排和t-AML，并与t(1；11)(q23；p15)的其他两例报告进行了比较。(C)2007 Elsevier Inc.保留所有权利。
Balanced chromosome rearrangements are the hallmark of therapy-related leukemia that develops in patients treated with topoisomerase 11 inhibitors. Many of these rearrangements involve recurrent chromosomal sites and associated genes (11q23/MLL, 21q22.3/AML1, and 11p15/NUP98), which can interact with a variety of partner genes. One such rearrangement is the rare t(1;11)(q23;p15), which involves juxtaposition of the homeobox gene PMXI (PRRXI) and NUP98. We report on an additional patient with t(1; 11) who presented with myelodysplastic syndrome (MDS) subsequent to treatment for a pleomorphic liposarcoma. With time, the patient's disorder progressed to acute myelomonocytic leukemia with cytogenetic evidence of clonal evolution. To our knowledge, this is the first report of a patient presenting with a myelodysplastic syndrome with isolated t(1;11) (q23;p15), which evolved into therapy-related acute myeloid leukemia (t-AML). This patient is the third reported with this cytogenetic rearrangement and t-AML, and is compared with the other two reports of t(1;11)(q23;p15). (C) 2007 Elsevier Inc. All rights reserved.