Patsouris Crisoula, Michael Patricia M, Campbell Lynda J
Victorian Cancer Cytogenetics Service, St. Vincent's Hospital Melbourne, P.O. Box 2900, Fitzroy, VIC, 3065, Australia.
Cancer Genet Cytogenet. 2002 Oct 1;138(1):32-7. doi: 10.1016/s0165-4608(02)00579-4.
Deletions of chromosomes 17 and 20 are well-described abnormalities in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) but translocations involving these two chromosomes are uncommon. We present five male patients, one with MDS and four with AML, in whom a new, nonrandom unbalanced dicentric t(17;20), resulting in deletions of 17p and 20q, was identified. Conventional cytogenetics showed additional karyotypic abnormalities in most of the patients, including deletions of 5q, deletions or monosomy of chromosome 7, and deletions of 18q. Fluorescence in situ hybridization showed a deletion of the tumor suppressor gene TP53 on 17p. Of the four cases with follow-up data available, only two had received combination chemotherapy. Overall survival in these two cases was 6 and 7 weeks, respectively. Two other patients who had no active therapy administered died 6 weeks and 9 months after diagnosis, respectively. These five cases highlight a rare but recurrent abnormality in MDS and AML, potentially involving genes on 17p and 20q of importance in myeloid leukemogenesis.
17号和20号染色体缺失是骨髓增生异常综合征(MDS)和急性髓系白血病(AML)中已被充分描述的异常情况,但涉及这两条染色体的易位并不常见。我们报告了5例男性患者,其中1例患有MDS,4例患有AML,在这些患者中发现了一种新的、非随机的不平衡双着丝粒t(17;20),导致17p和20q缺失。传统细胞遗传学显示大多数患者还存在其他核型异常,包括5q缺失、7号染色体缺失或单体性以及18q缺失。荧光原位杂交显示17p上的肿瘤抑制基因TP53缺失。在有随访数据的4例病例中,只有2例接受了联合化疗。这2例患者的总生存期分别为6周和7周。另外2例未接受积极治疗的患者分别在诊断后6周和9个月死亡。这5例病例突出了MDS和AML中一种罕见但反复出现的异常情况,可能涉及在髓系白血病发生中具有重要意义的17p和20q上的基因。