Naslov
Detection of chromosomal imbalances in children's tumours

Autori
Petković, Giorgie ; Nakić, Melita ; Ćepulić, Mladen ; Čižmić, Ante

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Mjesto i datum
,

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
Chromosomes; tumours; children
(Chromosome; tumours; children)

Sažetak
The cytogenetic analyses of children's solid tumours are rare, due to low proliferative activity and difficulty in obtaining adequate number and quality of mitotic cells. In this study we present the results of cytogenetic analysis in 15 children with solid tumours. The aim of this study is to identify numerical and structural chromosome aberrations, and to determine the feasibility of using the interphase FISH method in the investigation of genomic imbalances. Cytogenetic investigations were performed on slides obtained by direct method of tumour tissue treatment. GTG- and CBG- banding method were used for chromosome identification. FISH analysis was carried out using locus specific and chromosome specific centromeric probes (Vysis). Analyzable metaphases were obtained from 14 specimens, and in one tumour the data on genomic imbalance were obtained by interphase FISH. Clonal chromosome abnormalities were found in 14 cases, while in one tumour normal diploid karyotype was identified. Most tumour presented numerical aberrations ranging from near-diploidy to near-octoploidy. Double-minute chromosomes were identified in three specimens, ring and telomere fusions in one. Aberrations of chromosome No. 1 were the most frequent clonal rearrangements. Interphase FISH revealed N-myc amplification in one out of three investigated samples and loss of the short arm of chromosome 17 in one patient. Our early results confirm that FISH is not suitable for initial screening of chromosomal aberrations in solid tumour, but is a valuable tool for detecting tumour-specific chromosomal aberrations that have diagnostic and prognostic significance.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA