4号染色体三体细胞急性白血病的临床与实验回顾性分析

[Clinical and experimental retrospective analysis on acute leukemia with trisomy 4 cell].

作者信息

Pan Jin-lan, Xue Yong-quan, Qiu Hui-ying, Zhang Jun, Wu Ya-fang, Wang Yong, Shen Juan, Zhu Yong-jin

机构信息

The First Affiliated Hospital, Soochow University, Jiangsu Institute of Hematology, Suzhou, Jiangsu, 215006 P. R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):369-72.

PMID:17680522

Abstract

OBJECTIVE

To explore the clinical and experimental features of acute leukemia (AL) with trisomy 4.

METHODS

A retrospective analysis on the clinical and laboratory data of 21 cases of AL with trisomy 4 was performed. Chromosomes were prepared using direct method and/or short-term (24 h) cultures of bone marrow cells. Karyotypic analysis was carried out by using R-banding technique. Thirteen cases were studied by interphase fluorescence in situ hybridization (FISH) by using a chromosome 4-specific alpha -satellite DNA probe labeled by spectrum Green to ascertain the presence of a clone with trisomy 4. Five cases with t (8; 21) revealed by karyotypic analysis were detected by dual-color FISH using t (8; 21) translocation probe to confirm the AML1/ETO rearrangement.

RESULTS

All the patients with AL and trisomy 4 were with de novo AL except two cases with secondary AL. M2 was the most frequent Franch-American-British(FAB) subtype in this series (9/21 cases). The initial leukocyte count more than 10x 10(9)/L was seen in 16 cases. An enlargement of liver, spleen and/or lymph nodes in varying degrees was found in 15 cases. Among 15 cases received immunophenotypic analysis, 11 cases showed CD34 positivity and 6 cases co-expressed myeloid and lymphocyte antigens. Karyotypic analysis disclosed clonal trisomy 4 in 18 cases and one cell with +4 in 3 cases. Isolated trisomy 4 was found in 7 cases, while 14 cases had other abnormalities besides trisomy 4 among which t (8; 21) was found in 8 cases. Dual-color FISH confirmed that all 13 cases including 3 cases having one cell with +4 on karyotypic analysis had clonal trisomy 4. Dual-color FISH confirmed that all 5 cases with t (8; 21) had AML1/ETO rearrangement.

CONCLUSION

AL patients with trisomy 4 have unique clinical and experimental features and a poor prognosis.

摘要

目的

探讨4号染色体三体急性白血病（AL）的临床及实验特征。

方法

对21例4号染色体三体AL患者的临床和实验室资料进行回顾性分析。采用直接法和/或骨髓细胞短期（24小时）培养制备染色体。应用R显带技术进行核型分析。13例采用间期荧光原位杂交（FISH）技术，使用光谱绿标记的4号染色体特异性α卫星DNA探针，以确定4号染色体三体克隆的存在。对核型分析显示t（8；21）的5例患者，采用双色FISH技术，使用t（8；21）易位探针检测，以证实AML1/ETO重排。

结果

除2例继发性AL外，所有4号染色体三体AL患者均为原发性AL。本系列中最常见的法国-美国-英国（FAB）亚型为M2（9/21例）。16例患者初诊时白细胞计数超过10×10⁹/L。15例患者出现不同程度的肝、脾和/或淋巴结肿大。15例接受免疫表型分析的患者中，11例显示CD34阳性，6例同时表达髓系和淋巴细胞抗原。核型分析显示18例为克隆性4号染色体三体，3例有一个细胞为+4。7例为单纯4号染色体三体，14例除4号染色体三体外还有其他异常，其中8例为t（8；21）。双色FISH证实，包括核型分析有一个细胞为+4的3例在内的所有13例均有克隆性4号染色体三体。双色FISH证实，所有5例t（8；21）患者均有AML1/ETO重排。