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Identification of prognostic chromosomal aberrations in childhood acute lymphoblastic leukemia (CROSBI ID 551142)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

Lasan, R ; Konja, J ; Rajic, L ; Feminić, R ; Begović, D Identification of prognostic chromosomal aberrations in childhood acute lymphoblastic leukemia // ESHG. 2007

Podaci o odgovornosti

Lasan, R ; Konja, J ; Rajic, L ; Feminić, R ; Begović, D

engleski

Identification of prognostic chromosomal aberrations in childhood acute lymphoblastic leukemia

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.

ALL; Cytogenetic abnormalities

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Podaci o prilogu

2007.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

ESHG

Podaci o skupu

ESHG

poster

16.06.2007-19.06.2007

Nica, Francuska

Povezanost rada

Kliničke medicinske znanosti