PMID- 27060321 OWN - NLM STAT- MEDLINE DCOM- 20160630 LR - 20160410 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 33 IP - 2 DP - 2016 Apr TI - [Karyotype analysis and fluorescence in situ hybridization detection of 122 patients with myelodysplastic syndrome]. PG - 221-6 LID - 10.3760/cma.j.issn.1003-9406.2016.02.021 [doi] AB - OBJECTIVE: To assess the value of karyotype analysis and fluorescence in situ hybridization(FISH) assay for the diagnosis of myelodysplastic syndrome (MDS). METHODS: The karyotypes of 122 initially treated MDS patients were analyzed with conventional R-banding and FISH using probes including GLP CSF1R/D5S23, D5S721, GLP EGR1/D5S23, D5S721, GLP D7S486/CSP7, GLP D7S522/CSP7, GLP D20S108, CSP8 and CSP X/Y. RESULTS: The detection rate of chromosomal abnormalities was 54.9% for the 122 patients. Among these, those involving 3 or more chromosomes are most common (16.4%), followed by +8(14.8%), -7/7q-(7.4%), -5/5q-(5.7%), 20q-(2.5%), and -Y in male patients (5.0%). Two MDS-RAEB II patients detected with t(8;21) should be diagnosed with acute myelocytic leukemia. FISH analysis showed that 54 patients were positive (44.3%). Among these, 30.3% had CSP8 amplification, followed by GLP D7S486/CSP7 and GLP D7S522/CSP7 deletion (12.3%), GLP CSF1R/D5S23, D5S721 and GLP EGR1/D5S23, D5S721 deletion (9.8%), GLP D20S108 deletion (7.4%), and CSPX/Y deletion (5%). CONCLUSION: With a detection rate of 54.9%, R-banding still constitutes the basic examination for MDS. As detection of interstitial chromosomal abnormalities in MDS can be greatly enhanced by FISH, combined karyotype analysis and FISH can improve the diagnosis of MDS and facilitate assessment of its prognosis. FAU - Jing, Yuan AU - Jing Y AD - Department of Hematology, the First Affiliated Hospital, Dalian Medical University, Dalian, Liaoning 116011, China. jingyuanan@aliyun.com. FAU - Lin, Shuang AU - Lin S FAU - Jiang, Feng AU - Jiang F FAU - Wang, Fangting AU - Wang F FAU - Fang, Meiyun AU - Fang M LA - chi PT - English Abstract PT - Journal Article PT - Research Support, Non-U.S. Gov't 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 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Child MH - Chromosome Aberrations MH - Chromosome Banding MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Middle Aged MH - Myelodysplastic Syndromes/*genetics MH - Sequence Deletion MH - Young Adult EDAT- 2016/04/10 06:00 MHDA- 2016/07/01 06:00 CRDT- 2016/04/10 06:00 PHST- 2016/04/10 06:00 [entrez] PHST- 2016/04/10 06:00 [pubmed] PHST- 2016/07/01 06:00 [medline] AID - 940632047 [pii] AID - 10.3760/cma.j.issn.1003-9406.2016.02.021 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):221-6. doi: 10.3760/cma.j.issn.1003-9406.2016.02.021.