PMID- 20376798 OWN - NLM STAT- MEDLINE DCOM- 20100628 LR - 20100408 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 27 IP - 2 DP - 2010 Apr TI - [The different signal patterns of two FISH probes in the FISH detection of Ph-positive leukemia and their clinical significance]. PG - 166-70 LID - 10.3760/cma.j.issn.1003-9406.2010.02.011 [doi] AB - OBJECTIVE: To compare the signal patterns of dual color extra-signal BCR/ABL probe (ES-FISH) and dual color dual fusion BCR/ABL probe (D-FISH) in the fluorescence in situ hybridization (FISH) detection of Ph-positive leukemia, and to explore their diagnostic value. METHODS: ES-FISH probe and D-FISH probe were used, respectively, to detect the BCR/ABL fusion gene in 74 cases with typical t(9;22)(q34;q11) and 37 cases with variant t(9;22)(q34;q11) translocation or complex karyotypic abnormalities containing Ph translocation. RESULTS: The BCR/ABL fusion gene in all cases with typical t(9;22)(q34;q11) could be detected by both FISH probes. D-FISH had a signal pattern of 1O1G2F, while ES-FISH showed a signal pattern of 2O1G1F. ES-FISH enables the minor breakpoint cluster region to be identified in 9 cases (12.2% ) of Ph-positive leukemia, whereas D-FISH could not differentiate the minor breakpoint cluster region from major breakpoint cluster region. D-FISH could distinguish simple ABL gene deletion from simultaneous deletion of the ABL and BCR genes in 8 cases (10.8%) of Ph-positive leukemia patients, but ES-FISH could not. For variant Ph translocation or complex karyotypic abnormalities containing Ph translocation, each FISH probe showed four or six types of signal pattern, most of which were atypical. The exact interpretation was dependent on conventional karyotypic analysis and FISH on metaphases. CONCLUSION: ES-FISH and D-FISH probes displayed different signal patterns in Ph-positive leukemia due to their differences in size and covered regions. ES-FISH and D-FISH probes may be selected as better probe for Ph-positive acute lymphocytic leukemia and Ph-positive chronic myeloid leukemia, respectively. When imatinib was used for treatment, there was no preference between ES-FISH and D-FISH probe, because major breakpoint cluster region, minor breakpoint cluster region and partial sequence deletion of derivative chromosome 9, would not affect the prognosis of Ph-positive leukemia. However, considering that ES-FISH probe has a better cost-performance than D-FISH probe does, it is recommended as first choice. FAU - Jiang, Hui AU - Jiang H AD - Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Thrombosis and Hemostasis Key Laboratory of the Ministry of Health, Soochow University, Suzhou, Jiangsu, P.R. China. FAU - Xue, Yong-quan AU - Xue YQ FAU - Pan, Jin-lan AU - Pan JL FAU - Zhang, Jun AU - Zhang J FAU - Dai, Hai-ping AU - Dai HP FAU - Wu, Ya-fang AU - Wu YF FAU - Wang, Yong AU - Wang Y FAU - Shen, Juan AU - Shen J FAU - Chen, Su-ning AU - Chen SN LA - chi PT - English Abstract PT - Journal Article PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 RN - EC 2.7.11.1 (Proto-Oncogene Proteins c-bcr) SB - IM MH - Case-Control Studies MH - Chromosomes, Human, Pair 9/genetics MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Karyotyping MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*diagnosis/*genetics MH - Proto-Oncogene Proteins c-bcr/genetics EDAT- 2010/04/09 06:00 MHDA- 2010/06/29 06:00 CRDT- 2010/04/09 06:00 PHST- 2010/04/09 06:00 [entrez] PHST- 2010/04/09 06:00 [pubmed] PHST- 2010/06/29 06:00 [medline] AID - 940627032 [pii] AID - 10.3760/cma.j.issn.1003-9406.2010.02.011 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):166-70. doi: 10.3760/cma.j.issn.1003-9406.2010.02.011.