Zbornik - Društvo genetičara Srbije

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186 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Usm-3 Subotica, 30. novembar - 4. decembar 2004. VARIJANTNE TRANSLOKACIJE I TIPOVI BCR/abl GENSKOG REARANMANA U HRONIÈNOJ MIJELOIDNOJ LEUKEMIJI Vesna Ðorðeviæ 1 , Jelica Jovanoviæ 1 , Biljana Todoriæ 2 , Z. Magiæ 2 , Koviljka Krtolica 3 i Darinka Boškoviæ 1 1 2 Institut za hematologiju Klinièkog centra Srbije, Vojnomedicinska akademija, 3 Institut za nuklearne nauke «Vinèa», Beograd U radu je pretstavljeno 19 bolesnika sa dijagnozom CML kod kojih je potvrðeno prisustvo varijantne translokacije u kariotipu. Citogenetska analiza uraðena je direktnom preparacijom æelija iz kostne sri bolesnika, a analiza hromozoma vršena je modifikovanom metodom – HG tehnikom traka. Kod dva (2/19) bolesnika detektovan je Ph hromozom nastao jednostavnim, varijantnim translokacijama i to: t(10;22)(q25;q11) i t(12;22)(p11;p12). U kariotipu preostalih 17 (17/19) bolesnika otkrivene su varijantne translokacije kompleksnog tipa. Reverzna transkripcija-lanèana reakcija polimeraze (RT-PCR) korišæena je za detekciju ekspresije BCR/abl fuzionisanih gena kod osam (8/19) bolesnika. Registrovan je BCR/abl genski rearanman tipa b3a2 kod šest (6/8) bolesnika, dok je genski rearanman tipa b2a2 bio prisutan kod jednog (1/8) bolesnika. Kod jednog (1/8) bolesnika sa jednostavnom, varijantnom translokacijom, ekspresija BCR/abl gena nije detektovana. Rezultati citogenetskih i molekularnih ispitivanja CML bolesnika sa «varjantnim» Ph hromozomom prikazani u ovom radu, jasno ukazuju da varijantne translokacije hromozoma 9 i 22 predstavljaju veliki istraivaèki izazov, pogotovo ako se ima u vidu èinjenica da tipovi rearanmana BCR/abl fuzionisanog gena mogu biti razlièiti i drugaèiji od specifiènih rearanmana (b2a2 i b3a2) za CML. VARIANT TRANSLOCATIONS AND THE FORMS OF BCR/abl REARRANGEMENT IN CHRONIC MYELOID LEUKEMIA In this study, variant translocation in 19 patients with newly diagnosed CML, was presented. Cytogeneric analysis was performed on bone marrow cells after direct preparation. Chromosomal analysis was performed according to our modified method of HG-banding. Two (2/19) patients had simple variant Ph-producing translocations, and other (17/19) patients had complex variant translocations. Reverse transcription-polymerase chain reaction (RT-PCR) for detection of the expresion of BCR/abl sequence in eight CML patients was performed. BCR/abl rearrangement was found to be expressed in b3a2 form in six (6/8) patients, but in b2a2 form in one (1/8) patient. Using RT-PCR analysis in one (1/8) CML patient with simple variant translocation, we found that BCR/abl rearrangement was not expressed. Results of cytogenetic and molecular investigations in cases of «variant» Ph chromosome CML reviewed in this study cleary indicate that variant translocations of chromosomes 9 and 22 are great research challenge, especially in case of rearrangement forms of BCR/abl hibrid gen that can be different from each other and different from specific rearragements (b2a2, b3a2) for CML.
V-Usm-4 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 187 Subotica, 30. novembar - 4. decembar 2004. PROGNOSTIÈKI ZNAÈAJ GENETIÈKIH PROMENA DETEKTOVANIH KOD PACIJENATA SA NEUROBLASTOMOM M. Ðurišiæ 1 , M. Guæ-Šæekiæ 1 , D. Ðokiæ 2 , D. Vujiæ 3 , I. Miloviæ 4 , S. Ðurièiæ 5 , D. Radivojeviæ 1 , T. Laliæ 1 i M. Ðuriæ 6 1 2 3 Laboratorija za medicinsku genetiku, Odeljenje hematoonkologije, Odeljenje za transplantaciju kostne sri i kriobiologiju, 4 Odeljenje za klinièku patologiju, 5 Hirurška klinika, 6 Odeljenje za neurologiju, Institut za zdravstvenu zaštitu majke i deteta Srbije «Dr Vukan Èupiæ», Beograd U periodu od januara 1997. do juna 2003. godine u Institutu za zdravstvenu zaštitu majke i deteta Srbije «Dr Vukan Èupiæ» u Beogradu je dijagnostikovano 47 pacijenata sa NB. Meðu njima je dvanaestoro (25,53%) bilo uzrasta ispod 1 godine. Citogenetièka analiza je uraðena kod 34 (72,34%) pacijenta. Kod 16 pacijenata bez infiltracije tumorskih æelija u kostnu sr naðen je normalan kariotip. Kod 18 pacijenata sa diseminovanim tumorom rezultati citogenetièke analize su bili sledeæi: 8 (44,4%) pacijenata je imalo normalan kariotip, a kod 10 (29,4%) pacijenata je naðena poliploidija u mozaiku sa normalnim æelijama. Detektovani su sledeæi aberantni kariotipovi: «near»-diploidija (±46) u mozaiku (2 sluèaja-stadijum IV), «near»-triploidija (±69) u mozaiku (1 sluèaj-stadijum IV), «near»-tetraploidija (±92) u mozaiku (4 sluèaja-stadijum IV), homogeno obojeni regioni (HSRs) i «double» minutni hromozomi (DMs)(1 sluèaj-stadijum III), delecija 1p36 (1 sluèaj-stadijum IV) i kompleksni kariotip (1 sluèaj-stadijum IV). FISH u analizi hromozoma 1p36 je primenjen u 19 sluèajeva, a PCR u 4 sluèaja. MYCN analize su sprovedene na 27 tumora FISH metodom. Sedam od 27 NB tumora (25,92 %) (3 u stadijumu III, 3 u stadijumu IV i jedan u stadijumu IVs) je imalo amplifikovani MYCN. PROGNOSTIC VALUE OF GENETIC FINDINGS IN NEUROBLASTOMA PATIENTS FROM SERBIA AND MONTENEGRO In the present study 47 patients with NB were diagnosed at the Mother and Child Health Institute of Serbia «Dr Vukan Cupic», between January 1997. and June 2003. Among 47 NB patients 12 children (25,53%) were under the age of 1 year. Cytogenetic analysis was performed on 34 (72,34%) patients. In 16 patients with no bone marrow tumor cell infiltration normal karyotype was found. In 18 patients with disseminated disease cytogenetic results were as follows: 8 (44,4%) patients showed normal karyotype and in 10 (29,4%) patients poliploidy with normal cells were observed. The following aberrant karyotypes were detected: near diploidy (±46) in mosaic (2 cases-stage IV), near- triploidy (±69) in mosaic (one case-stage IV), near-tetraploidy (±92 ) in mosaic (4 cases-stage IV), homogeneously staining regions (HSRs) and double minute chromosomes (DMs)(one case-stage III), deletion 1p36 (one case-stage IV) and complex karyotype (one case-stage IV). Chromosome 1p36 analysis was performed on twenty three patients using FISH (19 cases) and PCR (4 cases). MYCN analyses were performed on 27 tumors by FISH. Seven of 27 NB tumors (25,92%)(3 at stage III, 3 at stage IV and one at stage IVs) were with amplified MYCN.
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DRUŠTVO GENETIČARA SRBIJE SERBIAN
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Zbornik - Društvo genetičara Srbije

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