Callet-Bauchu E, Rimokh R, Tigaud I, Pagès J, Gazzo S, Bastion Y, Sebban C, Magaud J P, Coiffier B, Felman P
Laboratoire Central d'Hématologie, Centre Hospitalier Lyon Sud, France.
Genes Chromosomes Cancer. 1996 Nov;17(3):185-90. doi: 10.1002/(SICI)1098-2264(199611)17:3<185::AID-GCC7>3.0.CO;2-0.
We describe a new nonrandom rearrangement, dic(4;17)(p11;p11), which was identified in three patients with small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL). All three cases had in common atypical morphological features with a significant component of prolymphocytes, an unusual clinical outcome, and were refractory to chemotherapy. To further define the cytogenetic breakpoints, we investigated the cases by whole chromosome painting and fluorescence in situ hybridization (FISH) with centromeric probes. FISH analysis detected the same cytogenetic rearrangement in all patients, suggesting that the dic(4;17)(p11;p11) is a recurrent translocation in SLL/CLL. Moreover, FISH analysis showed a monoallelic deletion of the TP53 gene in all cases, suggesting a correlation with the aggressive course of the disease and the clinical outcome observed in these patients.
我们描述了一种新的非随机重排，即双着丝粒染色体（4；17）（p11；p11），它在3例小淋巴细胞淋巴瘤/慢性淋巴细胞白血病（SLL/CLL）患者中被发现。所有3例患者都具有共同的非典型形态学特征，即存在大量幼淋巴细胞成分，临床结局异常，且对化疗耐药。为了进一步确定细胞遗传学断点，我们通过全染色体涂染以及使用着丝粒探针的荧光原位杂交（FISH）技术对这些病例进行了研究。FISH分析在所有患者中均检测到相同的细胞遗传学重排，提示双着丝粒染色体（4；17）（p11；p11）是SLL/CLL中一种反复出现的易位。此外，FISH分析显示所有病例中TP53基因均存在单等位基因缺失，提示其与疾病的侵袭性病程以及这些患者所观察到的临床结局相关。
