Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
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V-Usm-4 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 187<br />
Subotica, 30. novembar - 4. decembar 2004.<br />
PROGNOSTIÈKI ZNAÈAJ GENETIÈKIH PROMENA DETEKTOVANIH<br />
KOD PACIJENATA SA NEUROBLASTOMOM<br />
M. Ðurišiæ 1 , M. Guæ-Šæekiæ 1 , D. Ðokiæ 2 , D. Vujiæ 3 , I. Miloviæ 4 , S. Ðurièiæ 5 ,<br />
D. Radivojeviæ 1 , T. Laliæ 1 i M. Ðuriæ 6<br />
1 2 3<br />
Laboratorija za medicinsku genetiku, Odeljenje hematoonkologije, Odeljenje za transplantaciju<br />
kostne sri i kriobiologiju, 4 Odeljenje za klinièku patologiju, 5 Hirurška klinika, 6 Odeljenje za<br />
neurologiju, Institut za zdravstvenu zaštitu majke i deteta <strong>Srbije</strong> «Dr Vukan Èupiæ», Beograd<br />
U periodu od januara 1997. do juna 2003. godine u Institutu za zdravstvenu zaštitu majke<br />
i deteta <strong>Srbije</strong> «Dr Vukan Èupiæ» u Beogradu je dijagnostikovano 47 pacijenata sa NB.<br />
Meðu njima je dvanaestoro (25,53%) bilo uzrasta ispod 1 godine. Citogenetièka analiza<br />
je uraðena kod 34 (72,34%) pacijenta. Kod 16 pacijenata bez infiltracije tumorskih æelija<br />
u kostnu sr naðen je normalan kariotip. Kod 18 pacijenata sa diseminovanim tumorom<br />
rezultati citogenetièke analize su bili sledeæi: 8 (44,4%) pacijenata je imalo normalan<br />
kariotip, a kod 10 (29,4%) pacijenata je naðena poliploidija u mozaiku sa normalnim<br />
æelijama. Detektovani su sledeæi aberantni kariotipovi: «near»-diploidija (±46) u<br />
mozaiku (2 sluèaja-stadijum IV), «near»-triploidija (±69) u mozaiku (1 sluèaj-stadijum<br />
IV), «near»-tetraploidija (±92) u mozaiku (4 sluèaja-stadijum IV), homogeno obojeni<br />
regioni (HSRs) i «double» minutni hromozomi (DMs)(1 sluèaj-stadijum III), delecija<br />
1p36 (1 sluèaj-stadijum IV) i kompleksni kariotip (1 sluèaj-stadijum IV). FISH u analizi<br />
hromozoma 1p36 je primenjen u 19 sluèajeva, a PCR u 4 sluèaja. MYCN analize su<br />
sprovedene na 27 tumora FISH metodom. Sedam od 27 NB tumora (25,92 %) (3 u<br />
stadijumu III, 3 u stadijumu IV i jedan u stadijumu IVs) je imalo amplifikovani MYCN.<br />
PROGNOSTIC VALUE OF GENETIC FINDINGS IN NEUROBLASTOMA<br />
PATIENTS FROM SERBIA AND MONTENEGRO<br />
In the present study 47 patients with NB were diagnosed at the Mother and Child Health<br />
Institute of Serbia «Dr Vukan Cupic», between January 1997. and June 2003. Among 47<br />
NB patients 12 children (25,53%) were under the age of 1 year. Cytogenetic analysis was<br />
performed on 34 (72,34%) patients. In 16 patients with no bone marrow tumor cell infiltration<br />
normal karyotype was found. In 18 patients with disseminated disease cytogenetic<br />
results were as follows: 8 (44,4%) patients showed normal karyotype and in 10 (29,4%)<br />
patients poliploidy with normal cells were observed. The following aberrant karyotypes<br />
were detected: near diploidy (±46) in mosaic (2 cases-stage IV), near- triploidy (±69) in<br />
mosaic (one case-stage IV), near-tetraploidy (±92 ) in mosaic (4 cases-stage IV), homogeneously<br />
staining regions (HSRs) and double minute chromosomes (DMs)(one<br />
case-stage III), deletion 1p36 (one case-stage IV) and complex karyotype (one case-stage<br />
IV). Chromosome 1p36 analysis was performed on twenty three patients using FISH (19<br />
cases) and PCR (4 cases). MYCN analyses were performed on 27 tumors by FISH. Seven<br />
of 27 NB tumors (25,92%)(3 at stage III, 3 at stage IV and one at stage IVs) were with<br />
amplified MYCN.