Cytogenetics and fluorescence in-situ hybridization in detection of hematological malignancies.
BACKGROUND
The technique of Fluorescence In-Situ Hybridization (FISH), a hybrid of cytogenetics and molecular biology has increased the resolution and application of cytogenetics in various neoplastic processes. In various types of leukemias, primary investigation by conventional cytogenetic [CC] technique followed by FISH has increased our understanding of the abnormal clonal formation involving different gene region.


OBJECTIVE
Present study is aimed to use different kinds of in-house FISH probes in various hematological malignancies and its correlation with conventional cytogenetic finding.


METHODS
Cytogenetic study was carried out in 360 patients either from peripheral blood or from bone marrow cells suspected for various types of leukemias. Four of 360 cases were further selected for FISH study by using different types of in-house probes, such as BAC [Bacterial Artificial Chromosome], PAC [Phague Artificial Chromosome], alphoid, PCP [Partial Chromosome Paint] and WCP [Whole Chromosome paint].


RESULTS
The results confirmed breakpoints of inversion 16 and del 16 in case 2 and 3 respectively. Whereas, case 1 did not confirm the cytogenetic findings of t(15;17) by PML/RARa fusion signals as multiple cell lines were involved in the patients. PCP and WCP were helpful in the identification of the marker chromosome in case 1. Telomeric and centromeric probes confirmed the cytogenetic findings of t(5;7) in case 4.


CONCLUSIONS
We observe from this study that, in addition to the conventional cytogenetic study, FISH study provide further confirmation of chromosomal rearrangements. This facilitates our understanding of the neoplastic process more precisely for the better prognostication of the patient.
Frenny
V J
VJ
FRIGE, Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad-380 015, India. jshethad1@sancharnet.in
Antonella
Z
Z
Luisa
A
A
Shah
A D
AD
Sheth
J J
JJ
Rocchi
M
M
D001854:Bone Marrow Cells / Q000473:pathology; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D020223:Chromosome Painting; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D020732:Cytogenetic Analysis; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics* / Q000473:pathology; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000473:pathology; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000378:metabolism; D014178:Translocation, Genetic
D015342:DNA Probes; D015514:Oncogene Proteins, Fusion