Document Detail

Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype.
MedLine Citation:
PMID:  11753603     Owner:  NLM     Status:  MEDLINE    
At diagnosis, approximately half of myelodysplastic (MDS) patients presents a normal karyotype by conventional cytogenetic analysis (CCA). Fluorescent in situ hybridization (FISH) is more sensitive than CCA allowing for the detection of minor clones and of submicroscopic lesions. We have analyzed by FISH 101 MDS patients with normal karyotype for the occurrence of the abnormalities which are most frequently observed in MDS (ie -5/5q-, -7/7q-, +8, 17p-). In 18 patients, 15 to 32% of interphase cells were found to carry one FISH abnormality. Six patients presented trisomy 8, five had del(5)(q31), five del(7)(q31), one monosomy 7 and one del(17)(p13). FISH abnormalities were more frequently observed among patients with an increased percentage of bone marrow blasts (P = 0.001). FISH abnormalities were also associated with a higher rate of progression into AML (13/18 vs 12/83, P < 0.001) and were predictive for a worse prognosis (P < 0.001). Multivariate analysis indicated that FISH positivity and IPSS risk group were independent predictors for a poor survival (P = 0.0057 and 0.0123, respectively) and for leukemic transformation (P = 0.0006 and 0.035, respectively). Leukemic transformation in FISH-positive patients was associated in all cases with an expansion of the abnormal clone. Our data demonstrated that a significant proportion of MDS patients with normal karyotype presented, if analyzed by FISH, clones of cytogenetically abnormal cells which played a determinant role in the progression of the disease. The presence of FISH abnormalities identified a group of MDS patients with normal karyotype characterized by an inferior prognosis.
G M Rigolin; R Bigoni; R Milani; F Cavazzini; M G Roberti; A Bardi; P Agostini; M Della Porta; A Tieghi; N Piva; A Cuneo; G Castoldi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Leukemia     Volume:  15     ISSN:  0887-6924     ISO Abbreviation:  Leukemia     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2001-12-25     Completed Date:  2002-01-22     Revised Date:  2013-03-04    
Medline Journal Info:
Nlm Unique ID:  8704895     Medline TA:  Leukemia     Country:  England    
Other Details:
Languages:  eng     Pagination:  1841-7     Citation Subset:  IM    
Section of Hematology, Department of Biomedical Sciences, University of Ferrara, Corso Giovecca, 203, 44100 Ferrara, Italy.
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MeSH Terms
Aged, 80 and over
Cell Transformation, Neoplastic / genetics
Chromosome Aberrations*
Clone Cells / pathology
Cytogenetic Analysis / methods,  standards*
Disease Progression
In Situ Hybridization, Fluorescence / standards
Middle Aged
Myelodysplastic Syndromes / diagnosis,  genetics*,  mortality
Survival Rate

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