侵袭性疾病B细胞慢性淋巴细胞白血病患者的分子细胞遗传学分析

Molecular cytogenetic analysis of B-CLL patients with aggressive disease.

作者信息

Gozzetti Alessandro, Crupi Rosaria, Tozzuoli Daniela, Raspadori Donatella, Forconi Francesco, Lauria Francesco

机构信息

Department of Medicine and Immunological Sciences, Division of Hematology and Transplants, University of Siena, Siena, Italy. gozzetti.unisi.it

出版信息

Hematology. 2004 Oct-Dec;9(5-6):383-5. doi: 10.1080/10245330400010661.

DOI:10.1080/10245330400010661

PMID:15763978

Abstract

We tested a set of commercially available probes to determine the feasibility and accuracy of FISH in the detection of abnormalities in 13 patients with Chronic Lymphocytic Leukemia (CLL) with a particular aggressive clinical disease. We utilized three different probes for the 13q12-14 region, one for the centromeric region of chromosome 12, one for the P53 gene at 17p13.1 and one for 3'-5' IGH at 14q32, covering the entire region of IGH, thus potentially allowing to detect more rearrangements. Conventional cytogenetic study showed a normal karyotype in 8/13 patients. FISH was able to detect chromosomal abnormalities in 10/13 pts (85%): +12 in 4 pts (38%); del 13q in 4 (38%); del 17p in 3 (35%); del of 5'-IGH in 1 (15%). In conclusion FISH confirmed its ability to improve the detection of cytogenetic abnormalities especially in patients with an aggressive disease.

摘要

我们测试了一组市售探针，以确定荧光原位杂交（FISH）在检测13例具有特定侵袭性临床疾病的慢性淋巴细胞白血病（CLL）患者异常情况中的可行性和准确性。我们对13q12 - 14区域使用了三种不同的探针，一种用于12号染色体的着丝粒区域，一种用于17p13.1处的P53基因，一种用于14q32处的3'-5' IGH，覆盖IGH的整个区域，从而有可能检测到更多重排。传统细胞遗传学研究显示13例患者中有8例核型正常。FISH能够在13例患者中的10例（85%）检测到染色体异常：4例（38%）为+12；4例（38%）为13q缺失；3例（35%）为17p缺失；1例（15%）为5'-IGH缺失。总之，FISH证实了其在改善细胞遗传学异常检测方面的能力，特别是在侵袭性疾病患者中。