[Detection of trisomy 8 and monosomy 7 in chronic granulocytic leukemia and myelodysplastic syndrome by cytogenetic analysis and fluorescence in situ hybridization].
OBJECTIVE
In this retrospective study the authors studied how interphase fluorescence in situ hybridization can be applied to the diagnosis of numerical chromosomal anomalies failed to be identified by cytogenetic analysis.


METHODS
Thirty-four patients, 27 with chronic granulocytic leukemia and seven with myelodysplastic syndrome, were studied in order to identify disease-specific aberrations, trisomy 8 and monosomy 7 using both traditional cytogenetic analysis and fluorescence in situ hybridization on interphase bone marrow cells. Using alphoid-satellite centromeric specific probes, trisomy 8 indicating the progression of the disease and poor prognosis in chronic granulocytic leukemia as well as monosomy 7 in myelodysplastic syndrome were identified.


RESULTS
In 21 of 34 cases both methods led to the same results. In 13 patients fluorescence in situ hybridization making possible to examine a great number of cells, provided more information about the gain and loss of chromosomes above and clarified uncertain cytogenetic results.


CONCLUSIONS
In both hematological malignancies, studied by the authors, fluorescence in situ hybridization proved a useful and sensitive method to determine chromosomes unrecognized or not accurately identified by the traditional cytogenetic analysis and to define the ratio of pathological cells. At the same time the results confirm that conventional cytogenetic analysis is still essential in diagnosing the genetic alterations of malignant cells and point at the chromosomes that are worth further studying by other methods.
Szabó Gabriella
P
P
Debreceni Egyetem, Orvos-és Egészségtudományi Centrum, Altalános Orvostudományi Kar, Gyermekklinika.
Balogh
Erzsébet
E
Jakab
Zsuzsanna
Z
Germán
Péter
P
Bodnár
Ferencné
F
Kiss
Attila
A
Telek
Béla
B
Oláh
Eva
E
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009006:Monosomy / Q000175:diagnosis* / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000235:genetics; D012189:Retrospective Studies; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics