title: The utility of fluorescence in situ hybridization analysis in diagnosing myelodysplastic syndromes is limited to cases with karyotype failure.
abstract: Fluorescence in situ hybridization (FISH) is being used increasingly in cytogenetic diagnosis of myelodysplastic syndromes (MDS). However, the utility of FISH in this role has not been well-defined. A total of 249 de novo MDS patients were submitted to karyotyping and FISH analysis for -5/del(5)(q31), -7/del(7)(q31), +8, -17/i(17)(q10), del(20)(q12), and -Y. Of the 234 patients with available karyotypic data, 143 cases (60.9%) demonstrated normal karyotype and 91 cases (39.1%) showed abnormal karyotype. FISH confirmed R-banding findings in 96.6% (226/234) of samples with successful karyotyping and detected cytogenetic abnormalities in 46.7% (7/15) of cases with karyotype failure. Of the 3.4% (8/234) patients showing discrepancies between FISH and R-banding, FISH revealed cytogenetic abnormalities in four patients with normal karyotypes and four patients with complex karyotypes. These results highlight FISH analysis has limited value in MDS cases with successful karyotyping and is only informative in MDS cases with karyotype failure.
authors: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou 215006, Jiangsu, PR China.
authors: Hui
authors: H
authors: Jiang
authors: Yongquan
authors: Y
authors: Xue
authors: Qinrong
authors: Q
authors: Wang
authors: Jinlan
authors: J
authors: Pan
authors: Yafang
authors: Y
authors: Wu
authors: Jun
authors: J
authors: Zhang
authors: Shuxiao
authors: S
authors: Bai
authors: Qian
authors: Q
authors: Wang
authors: Guangsheng
authors: G
authors: He
authors: Aining
authors: A
authors: Sun
authors: Depei
authors: D
authors: Wu
authors: Suning
authors: S
authors: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult