Document Detail

Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients.
MedLine Citation:
PMID:  12931223     Owner:  NLM     Status:  MEDLINE    
Conventional cytogenetics (CC) at clinical diagnosis shows a normal karyotype in 40-60% of de novo myelodysplastic syndromes (MDSs). Fluorescence in situ hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typically normal on CC. At clinical diagnosis, FISH revealed a clonal abnormality in 18-28% interphase cells from nine patients, five of whom also presented the same defect on metaphase FISH. In five out of nine patients, the occult defect effected a change in the international prognostic scoring system (IPSS). An abnormal FISH pattern was significantly correlated with marrow blast cell percentage (P<10(-3)) and IPSS (P<10(-3)). Patients with an occult abnormality showed an overall survival and event-free survival significantly inferior in comparison to those of patients with normal FISH (P<10(-3), P<10(-3)). Death and AML progression were 15- and eight-fold more frequent in FISH abnormal patients. In conclusion, occult defects (1) are revealed in about 15% of CC normal MDS patients, (2) are overlooked by CC either because of the poor quality of metaphases or their submicroscopic nature, (3) are clinically relevant as they may cause a change in the IPSS category and may identify a fraction of CC normal patients with an unfavorable clinical outcome.
P Bernasconi; P M Cavigliano; M Boni; S Calatroni; C Klersy; I Giardini; B Rocca; N Crosetto; M Caresana; M Lazzarino; C Bernasconi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Leukemia     Volume:  17     ISSN:  0887-6924     ISO Abbreviation:  Leukemia     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2003-10-24     Completed Date:  2004-02-05     Revised Date:  2013-03-04    
Medline Journal Info:
Nlm Unique ID:  8704895     Medline TA:  Leukemia     Country:  England    
Other Details:
Languages:  eng     Pagination:  2107-12     Citation Subset:  IM    
Division of Hematology, Policlinico San Matteo IRCCS, University of Pavia, Italy.
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MeSH Terms
Aged, 80 and over
Chromosome Aberrations*
Chromosome Mapping*
Disease Progression
In Situ Hybridization, Fluorescence*
Middle Aged
Myelodysplastic Syndromes / genetics*,  therapy
Proportional Hazards Models
Reference Values
Treatment Outcome

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