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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

Zachariadis, V.; Gauffin, F.; Kuchinskaya, E.; Heyman, M.; Schoumans, J.; Blennow, E.; Gustafsson, B.; Barbany, G.; Golovleva, I. and Ehrencrona, Hans LU , et al. (2011) In Leukemia 25(4). p.622-628
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... (More)
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. Leukemia (2011) 25, 622-628; doi:10.1038/leu.2010.318; published online 18 January 2011 (Less)
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* 20) * dic(9 * acute lymphoblastic leukemia * FISH
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Leukemia
volume
25
issue
4
pages
622 - 628
publisher
Nature Publishing Group
external identifiers
  • wos:000289475300008
  • scopus:79954444344
ISSN
1476-5551
DOI
10.1038/leu.2010.318
language
English
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yes
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@article{2f6e6ba4-e0e5-4edd-979a-2f852de2df72,
  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. Leukemia (2011) 25, 622-628; doi:10.1038/leu.2010.318; published online 18 January 2011},
  author       = {Zachariadis, V. and Gauffin, F. and Kuchinskaya, E. and Heyman, M. and Schoumans, J. and Blennow, E. and Gustafsson, B. and Barbany, G. and Golovleva, I. and Ehrencrona, Hans and Cavelier, L. and Palmqvist, Linda and Lonnerholm, G. and Nordenskjold, M. and Johansson, Bertil and Forestier, E. and Nordgren, Agneta},
  issn         = {1476-5551},
  keyword      = {* 20) 
* dic(9 
* acute lymphoblastic leukemia
* FISH},
  language     = {eng},
  number       = {4},
  pages        = {622--628},
  publisher    = {Nature Publishing Group},
  series       = {Leukemia},
  title        = {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},
  url          = {http://dx.doi.org/10.1038/leu.2010.318},
  volume       = {25},
  year         = {2011},
}