Karyotype analysis and fluorescence in situ hybridization detection of 122 patients with myelodysplastic syndrome.
- Author:
Yuan JING
1
;
Shuang LIN
;
Feng JIANG
;
Fangting WANG
;
Meiyun FANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Aged, 80 and over; Child; Chromosome Aberrations; Chromosome Banding; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Middle Aged; Myelodysplastic Syndromes; genetics; Sequence Deletion; Young Adult
- From: Chinese Journal of Medical Genetics 2016;33(2):221-226
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of karyotype analysis and fluorescence in situ hybridization(FISH) assay for the diagnosis of myelodysplastic syndrome (MDS).
METHODSThe 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.
RESULTSThe 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%).
CONCLUSIONWith 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.
