Comparison of I-FISH and G-banding for the detection of chromosomal abnormalities during the evolution of myelodysplastic syndrome

Abstract

Myelodysplastic syndrome (MDS) patients with a normal karyotype constitute a heterogeneous group from a biological standpoint and their outcome is often unpredictable. Interphase fluorescence in situ hybridization (I-FISH) studies could increase the rate of detection of abnormalities, but previous reports in the literature have been contradictory. We performed I-FISH and conventional karyotyping (G-banding) on 50 MDS patients at diagnosis, after 6 and 12 months or at any time if a transformation to acute myeloid leukemia (AML) was detected. Applying a probe-panel targeting the centromere of chromosomes 7 and 8, 5q31, 5p15.2 and 7q31, we observed one case with 5q deletion not identified by G-banding. I-FISH at 6 and 12 months confirmed the karyotype results. Eight cases transformed to AML during follow-up, but no hidden clone was detected by I-FISH in any of them. The inclusion of I-FISH during follow-up of MDS resulted in a small improvement in abnormality detection when compared with conventional G-banding

Validation of cytogenetic risk groups according to International Prognostic Scoring Systems by peripheral blood CD34+FISH: results from a German diagnostic study in comparison with an international control group

“…15,[24][25][26] Former studies have already demonstrated that additional FISH analyses of bone marrow blood offer less or no further information if a sufficient banding analysis of at least 20 bone marrow metaphases is available, and that FISH provides only valuable additional impact, if a chromosome banding analysis is missing. 10,11,15,[24][25][26] In patients with a normal karyotype by chromosome banding, additional bone marrow FISH analyses seem to be useful to detect small clones or small deletions. 11,12 Without doubt, FISH cannot, and should not, replace chromosome banding analysis in general.…”

Cytogenetic Evaluation in 221 Untreated Patients with Myelodysplastic Syndrome

“…4,31,32 However, several studies have compared FISH and conventional cytogenetic analysis at specific times during the development of the disease and most of them have established only a small advantage of FISH to detect chromosomal abnormalities; because, classical FISH is a targeted method, which allows only to identify the changes that are indicated by strictly defined molecular probes. 3,21,33 FISH was suggested to be used in selected cases where insufficient numbers of metaphases are available for Standard G-banding. 4,8,21,32 In our study, clonal chromosome abnormalities had an incidence of 44.80%.…”

“…3,21,33 FISH was suggested to be used in selected cases where insufficient numbers of metaphases are available for Standard G-banding. 4,8,21,32 In our study, clonal chromosome abnormalities had an incidence of 44.80%. Deletions within the long arm of chromosome 5 are the most frequent changes in MDS accounting for roughly 30% of abnormal cases.…”

“…The most common aberrations in MDS are, deletion of the long arm of chromosome 5, monosomy of chromosome 7, deletion of the long arm of chromosome 7, trisomy 8, deletion of the long arm of chromo-some 9, deletion of the short arm of chromosome 17, deletion of the long arm of chromosome 20 and monosomy of chromosome Y. 3,8,10,12,21,22 In 1997, Greenberg published a collaborative multicentric international data set of 816 patients with primary MDS, which was the basis for the establishment of the IPSS. 14 The IPSS has placed cytogenetic abnormalities into 3 risk categories; good, intermediate and poor.…”

Polymorphisms of DNA repair genes are related to the pathogenesis of myelodysplastic syndrome

“…Conventional G‐Band karyotype analysis was performed on bone marrow cells . Briefly, cultures were established in RPMI 1640 medium (Gibco, Grand Island, NY, USA) containing 30% fetal calf serum.…”