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Karyotype analysis and fluorescence in situ hybridization detection of 122 patients with myelodysplastic syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 221-226, 2016.
Article in Chinese | WPRIM | ID: wpr-247701
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of karyotype analysis and fluorescence in situ hybridization(FISH) assay for the diagnosis of myelodysplastic syndrome (MDS).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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%).</p><p><b>CONCLUSION</b>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.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Myelodysplastic Syndromes / Chromosome Aberrations / Chromosome Banding / Sequence Deletion / In Situ Hybridization, Fluorescence / Genetics / Karyotyping Type of study: Diagnostic study Limits: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2016 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Myelodysplastic Syndromes / Chromosome Aberrations / Chromosome Banding / Sequence Deletion / In Situ Hybridization, Fluorescence / Genetics / Karyotyping Type of study: Diagnostic study Limits: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2016 Type: Article