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急性淋巴细胞白血病中的(14;18)(q32;q21)易位:12例研究及文献复习

Translocation (14;18)(q32;q21) in acute lymphoblastic leukemia: a study of 12 cases and review of the literature.

作者信息

D'Achille Pina, Seymour John F, Campbell Lynda J

机构信息

Victorian Cancer Cytogenetics Service, St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia.

出版信息

Cancer Genet Cytogenet. 2006 Nov;171(1):52-6. doi: 10.1016/j.cancergencyto.2006.07.005.

Abstract

We present a series of 12 cases of de novo acute lymphoblastic leukemia (ALL) with translocation t(14;18)(q32;q21). The median age of patients at presentation was 65.5 years, and no patient presented with a past history or any clinical evidence of lymphoma. A Burkitt translocation was identified in 4 of the 12 cases by conventional cytogenetics but fluorescence in situ hybridization using a MYC probe identified a further three cases of MYC rearrangement: one with a cryptic t(8;14) involving the der(14)t(14;18), one showing MYC translocated onto a marker chromosome, and one associated with a t(8;9)(q24;p13) translocation. A review of the literature identified an extremely close association between the t(14;18) and the t(8;9), with the latter translocation found only in the presence of t(14;18). The present study confirms the previously reported dismal prognosis of t(14;18)-associated ALL.

摘要

我们报告了12例新发急性淋巴细胞白血病(ALL)伴t(14;18)(q32;q21)易位的病例。患者就诊时的中位年龄为65.5岁,且无一例患者有淋巴瘤既往史或任何临床证据。通过传统细胞遗传学在12例中的4例中鉴定出伯基特易位,但使用MYC探针的荧光原位杂交又鉴定出另外3例MYC重排:1例为隐匿性t(8;14)累及der(14)t(14;18),1例显示MYC易位至一条标记染色体上,1例与t(8;9)(q24;p13)易位相关。文献回顾发现t(14;18)与t(8;9)之间存在极其密切的关联,后者仅在存在t(14;18)时才被发现。本研究证实了先前报道的t(14;18)相关ALL的预后不佳。

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