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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

Författare

  • V. Zachariadis
  • F. Gauffin
  • E. Kuchinskaya
  • M. Heyman
  • J. Schoumans
  • E. Blennow
  • B. Gustafsson
  • G. Barbany
  • I. Golovleva
  • Hans Ehrencrona
  • L. Cavelier
  • Linda Palmqvist
  • G. Lonnerholm
  • M. Nordenskjold
  • Bertil Johansson
  • E. Forestier
  • Agneta Nordgren

Summary, in English

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

Avdelning/ar

Publiceringsår

2011

Språk

Engelska

Sidor

622-628

Publikation/Tidskrift/Serie

Leukemia

Volym

25

Issue

4

Dokumenttyp

Artikel i tidskrift

Förlag

Nature Publishing Group

Ämne

  • Cancer and Oncology

Nyckelord

  • * 20) * dic(9 * acute lymphoblastic leukemia* FISH

Status

Published

Forskningsgrupp

  • Social Medicine and Global Health

ISBN/ISSN/Övrigt

  • ISSN: 1476-5551