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- Ofverholm, I. Ivanov, et al.
(författare)
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PROGNOSTIC IMPACT OF IKZF1 DELETIONS IN PEDIATRIC B-CELL PRECURSOR ACUTE LYMPHOBLASTIC LEUKEMIA TREATED ACCORDING TO NOPHO PROTOCOLS - THE SWEDISH EXPERIENCE
- 2014
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Ingår i: Haematologica. - 0390-6078 .- 1592-8721. ; 99:Suppl 1, s. 9-9
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Recently, IKZF1 deletions have been shown to be associated notonly with the leukemogenic process but also to confer a poor prognosis in allrisk groups of B-cell precursor ALL. In a previous study, we used Multiplex Ligation-dependentProbe Amplification (MLPA) to investigate the presence ofIKZF1 deletions in bone marrow DNA from 116 children diagnosed with BCPALL in a single center and treated according to NOPHO protocols. Deletionswere detected in 16% of cases; both event free survival and overall survivalwere significantly reduced in the IKZF1-deleted group compared to the groupwith intact IKZF1.
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- Zachariadis, V., et al.
(författare)
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The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia : results from the NOPHO ALL-2000 trial
- 2011
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Ingår i: Leukemia. - London : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 25:4, s. 622-628
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Tidskriftsartikel (refereegranskat)abstract
- The dic(9;20)(p13.2;q11.2) is reported to be present in similar to 2% of childhood B-cell precursor acute lymphoblastic leukemia (BCP ALL). However, it easily escapes detection by G-banding analysis and its true prevalence is hence unknown. We performed interphase fluorescence in situ hybridization analyses-in a three-step manner-using probes for: (i) CDKN2A at 9p21, (ii) 20p and 20q subtelomeres and (iii) cen9 and cen20. Out of 1033 BCP ALLs diagnosed from 2001 to 2006, 533 were analyzed; 16% (84/533) displayed 9p21 deletions, of which 30% (25/84) had dic(9;20). Thus, dic(9;20)-positivity was found in 4.7% (25/533), making it the third most common genetic subgroup after high hyperdiploidy and t(12;21)(p13;q22). The dic(9;20) was associated with a female predominance and an age peak at 3 years; 18/25 (72%) were allocated to non-standard risk treatment at diagnosis. Including cases detected by G-banding alone, 29 dic(9;20)-positive cases were treated according to the NOPHO ALL 2000 protocol. Relapses occurred in 24% (7/29) resulting in a 5-year event-free survival of 0.69, which was significantly worse than for t(12;21) (0.87; P = 0.002) and high hyperdiploidy (0.82; P = 0.04). We conclude that dic(9;20) is twice as common as previously surmised, with many cases going undetected by G-banding analysis, and that dic(9;20) should be considered a non-standard risk abnormality.
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