Usefulness of classic cytogenetic testing compared to fluorescence in situ hybridization in genetic diagnosis of 58 patients with myelodysplastic syndromes.
BACKGROUND
Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal diseases of pluripotent hematopoietic stem or progenitor cells. MDS are characterized by ineffective hematopoiesis, increased apoptosis, peripheral blood cytopenias, and propensity to evolve into acute myelogenous leukemia.


OBJECTIVE
The aim of our investigation was to compare the usefulness of classic cytogenetics and fluorescence in situ hybridization (FISH) to detect chromosome aberrations in myelodysplastic syndromes.


METHODS
The study was carried out in a group of 58 patients with MDS. G-banding using trypsin and Giemsa (GTG banding) and FISH with a panel of five molecular probes for aberrations with prognostic significance in MDS (cen7/8, 5q31, 7q22/q35, 17p13, 20q13.3) were performed on bone marrow cells.


RESULTS
The use of GTG technique allowed to detect chromosome aberrations in 25 (43.1%) subjects. However, the additional use of FISH showed the presence of aberrations also in additional 10 (17.2%) patients, which shifted 11 patients from one cytogenetic category to another.


CONCLUSIONS
The use of FISH with MDS probe panel beside classic cytogenetics improves detection of chromosome aberrations, and also stratification of MDS patients to prognostic groups. Both methods should be used simultaneously in every genetically diagnosed MDS patient.
Skonieczka
Katarzyna
K
Department of Clinical Genetics, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland.
Duszeńko
Ewa
E
Wyrowińska
Elzbieta
E
Haus
Olga
O
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow / Q000473:pathology*; D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology*; D012016:Reference Values