Pregled bibliografske jedinice broj: 409634
Identification of prognostic chromosomal aberrations in childhood acute lymphoblastic leukemia
Identification of prognostic chromosomal aberrations in childhood acute lymphoblastic leukemia // ESHG
Nica, Francuska, 2007. (poster, međunarodna recenzija, sažetak, stručni)
CROSBI ID: 409634 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Identification of prognostic chromosomal aberrations in childhood acute lymphoblastic leukemia
Autori
Lasan, R ; Konja, J ; Rajic, L ; Feminić, R ; Begović, D
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni
Izvornik
ESHG
/ - , 2007
Skup
ESHG
Mjesto i datum
Nica, Francuska, 16.06.2007. - 19.06.2007
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
ALL; Cytogenetic abnormalities
Sažetak
Cytogenetic abnormalities emerge as a very important characteristic of chilhood acute lymphoblastic leukemia (ALL) with major diagnostic and prognostic impact. We report bone marrow cytogenetic analysis (CTG) at the time of diagnosis 85 children (36 females and 49 males) with de novo ALL aged from 2 months to 15 years old. Uninformative investigations were 2.1%. Normal karyotype was detected in 40.0% (3 with constitutial +21) cases. The analysis was performed in the period of the last five years. Clonal chromosomal abnormalities were present in 60% of the patients. Changes in ploidy were found in 65.3% of abnormal cases. The distribution of ploidy groups was: hyperdiploidy with >50 chromosomes in 34.7% (seven of them were associated with structural chromosomal changes), hyperdiploidy (47-50 chromosomes) in 14.2%, pseudodiploidy in 4.1%, hypodiploidy (35-45 chromosomes) 12.2% of the patients. The most frequently acquired numerical abnormalities were: +4, +6, +8, +14, +17, +18, +21 and +X. Structural aberrations were found in 34.7% of the patients. The most frequent structural aberrations were: del(6q), del(9p), t(9 ; 22), rearrangments of chromosome 14q, 5q and 12p (mostly like a part of complex karyotype), and t(12 ; 21)(p13 ; q22.3). The stuctural and numerical aberrations observed in 69.5% patients were correiated by FISH. Translocations were: t(12 ; 21), t(9 ; 22), t(1 ; 12), and one marker chromosome was identified as der (21)t(21 ; ?). For residual disease, interphase-FISH in combination with cell enrichment or RT-PCR is extremely useful. Cytogenetic investigations at diagnosis and during follow up documented unique chromosomal aberrations which yielded diagnostic and/or prognostic significance for each relevant patient.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0049 - Zloćudne bolesti u djece (Konja, Josip, MZOS ) ( CroRIS)
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb