PMID- 24405535 OWN - NLM STAT- MEDLINE DCOM- 20140717 LR - 20140110 IS - 0376-2491 (Print) IS - 0376-2491 (Linking) VI - 93 IP - 40 DP - 2013 Oct 29 TI - [A comparative study of fluorescence in situ hybridization versus conventional cytogenetics in the detection of clonal aberrations in myelodysplastic syndrome]. PG - 3175-9 AB - OBJECTIVE: To compare the results of fluorescence in situ hybridization (FISH) versus conventional cytogenetics (CC) in the detection of common chromosomal abnormalities and evaluate the significance of FISH in myelodysplastic syndrome (MDS) . METHODS: A total of 344 patients with de novo MDS from June 2008 to October 2012 were detected by 6 pairs of probes, including CSF1R/D5S23-D5S721 (5q33) , EGR1/ D5S23-D5S721 (5q31) , D7S486 (7q31) /CSP7, D7S522 (7q31) /CSP7, D20S108/CSP8 (20q12/CSP8) and CSPX/CSPY. The results were compared with those of CC. RESULTS: CC revealed cytogenetic abnormalities in 168/344 cases (48.8%) and the frequency of common aberrations such as +8, 20q-, -7/7q-, -5/5q- and -Y were 18.9% (65/344) , 9.3% (32/344), 8.4% (29/344), 8.4% (29/344) and 2.4% (5/206) respectively. While FISH revealed chromosome abnormalities in 147/344 patients (42.7%) and the frequency of +8, 20q-, -7/7q-, -5/5q- and -Y were 20.9% (72/344), 11.6% (40/344), 11.6% (40/344), 10.2% (35/344) and 2.9% (6/206) respectively. Overall 187/344 patients (54.4%) carried clonal aberrations by a combination of CC and FISH. Among 158 patients with normal karyotype by CC, 14 cases (8.9%) were detected to have clonal aberrations by FISH. FISH also confirmed 4 carriers of clonal aberrations out of 9 patients with non clonal abnormalities by CC. CONCLUSIONS: FISH is effective for improving the probability of detecting chromosome abnormalities in MDS cases with normal karyotypes and karyotype failure. FISH may provide rationales for clonal abnormalities in patients with non clonal aberrations by CC. A combination of FISH and CC shows complementary advantages. FAU - Lai, Yue-yun AU - Lai YY AD - Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China. FAU - Li, Na AU - Li N FAU - Feng, Lin AU - Feng L FAU - Shi, Yan AU - Shi Y FAU - Dang, Hui AU - Dang H FAU - He, Qi AU - He Q FAU - Wang, Zheng AU - Wang Z FAU - Wang, Xiao-yan AU - Wang XY FAU - Li, Ye AU - Li Y FAU - Liu, Qing AU - Liu Q FAU - Huang, Xiao-jun AU - Huang XJ AD - Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China. Email: xjhrm@medmail.com. LA - chi PT - Comparative Study PT - English Abstract PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China TA - Zhonghua Yi Xue Za Zhi JT - Zhonghua yi xue za zhi JID - 7511141 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Child MH - Child, Preschool MH - Cytogenetics/*methods MH - Female MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Middle Aged MH - Myelodysplastic Syndromes/diagnosis/*genetics MH - Young Adult EDAT- 2014/01/11 06:00 MHDA- 2014/07/18 06:00 CRDT- 2014/01/11 06:00 PHST- 2014/01/11 06:00 [entrez] PHST- 2014/01/11 06:00 [pubmed] PHST- 2014/07/18 06:00 [medline] PST - ppublish SO - Zhonghua Yi Xue Za Zhi. 2013 Oct 29;93(40):3175-9.