Detection of Gene Abnormalities in 43 Cases of Chronic Lymphocytic Leukemia by Fluorescence in Situ Hybridization / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To explore the value of fluorescence in situ hybridization (FISH) in diagnosis and prognosis evaluation of chronic lymphocytic leukemia (CLL).</p><p><b>METHODS</b>R banding technique was used for karyotype analysis in 43 cases of CLL, and fluorescence in situ hybridization（FISH） technique was used for analysis of 5 genes in 43 cases of CLL, including D13S25, RB1,ATM, P53 and CEP 12 .</p><p><b>RESULTS</b>The detection rate of chromosome abnormality was 9.3％ for the 43 cases. The chromosome karyotype abnormality was involoved in the number abnormality and the structural abnormality, including No. 2, 6, 14, and sex chromosome. The patients with normal chromosome karyotype were more common（79.1％）. At the same time, mitotic figure in 5 CLL patients did not observed. The positive rate of FISH detection was 55.8％(24/43). Among which, D13S25 deletion was the highest and reached to 37.2％, followed by RB1 deletion（20.9％）, CEP 12 amplification（16.3％）, ATM deletion（9.3％） and P53 deletion（7.0％）. In 24 FISH-positive cases, 20 cases displayed the normal chromosome karyotype, and in 3 cases the mitotic figure was absent. There was only one case of abnormal chromosome, which was not involved in the positive gene tested by FISH.</p><p><b>CONCLUSION</b>FISH is an important means of CLL genetic detection, which can greatly raise the detection rate of cytogenetics abnormalities in CLL, but the probe quantity is limited, so it is necessary to use FISH technology combined with chromosome karyotype analysis so as to improve the detection rate of abnormal cytogenetics, and provide the basis for the clinical diagnosis and prognosis of CLL.</p>

Cytogenetic study on 53 patients with multiple myeloma / 中国实验血液学杂志

To explore the conventional cytogenetic (CC) characteristics and the partial molecular cytogenetic characteristics of multiple myeloma (MM), R banding technique was used for karyotype analysis in 53 cases of MM, and fluorescence in situ hybridization(FISH) technique was used for molecular cytogenetic analysis in 20 cases out of them. The results showed that the rate of chromosome abnormality was 32.1% in 53 cases. Among these abnormalities, 82.4% were involved in 3 or more than 3 chromosome aberrations, the mode of chromosome was from 44 to 90. The chromosome karyotype abnormality was involved in all of 24 chromosomes, and 70.6% chromosome aberrations involved at least one of 1q21 amplification, 13q14 deletion, 17p13 deletion and 14q32 translocation. Some uncommon structural aberrations were observed, such as t(11;16)(p11;p13) and some chromosome abnormalities were often revealed in acute or chronic leukemia. FISH detection showed that the results of 3 in 12 cases of MM with normal karyotype were positive; the results of 5 in 8 cases of MM with abnormal karyotype were positive. It is concluded that the abnormal chromosome karyotype was relatively complex in most cases of MM showing obvious heterogenicity. Detected rate of chromosome abnormalities in MM can be raised by FISH, though FISH technique has its limitations. If CC analysis and FISH technique are combined, it will be useful to raise the identification capability in detection of abnormal chromosomes in the cytogenetic study of MM.

Application of fluorescence in situ hybridization technique in diagnosis of variant Ph chromosome translocation and Ph-negative chronic myelocytic leukemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the value of fluorescence in situ hybridization (FISH) technique in diagnosis of variant Ph chromosome translocation (VT) and Ph chromosome-negative chronic myelocytic leukemia (CML).</p><p><b>METHODS</b>Nine CML patients with VT and 2 Ph chromosome-negative CML patients confirmed by R banding were assayed with dual color-dual fusion BCR/ABL probe by FISH.</p><p><b>RESULTS</b>The 9 patients with VT involved chromosomes 1, 3, 5, 12, 13, 15, 17 and 21 besides chromosomes 9 and 22, and some of them showed recurrent aberrations; FISH results were positive and the signal feature was 2R2G1Y. The 2 Ph-negative CML patients had normal karyotypes; FISH was positive and the signal feature was 1R1G2Y and 1R1G1Y respectively.</p><p><b>CONCLUSION</b>FISH can provide better diagnosis for CML with VT and Ph-negative CML. Abnormal karyotype and marker gene changes can be assessed based on the signal feature of the positive cell. So FISH is a complementary method to banding technique in diagnosis of CML.</p>