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Blood, 15 January 2001, Vol. 97, No. 2, pp. 572-574

BRIEF REPORT

Hemizygous p16INK4A deletion in pediatric acute lymphoblastic leukemia predicts independent risk of relapse

Tina L. Carter, Paul M. Watt, Rolee Kumar, Paul R. Burton, Gregory H. Reaman, Harland N. Sather, David L. Baker, and Ursula R. Kees

From the Division of Children's Leukaemia and Cancer Research and the Division of Biostatistics and Genetic Epidemiology, TVWT Institute for Child Health Research, Centre for Child Health Research, Faculty of Medicine and Dentistry, University of Western Australia; the Department of Haematology-Oncology, Princess Margaret Hospital, Perth, Australia; the Children's National Medical Center, The George Washington University, Washington, DC; the Children's Cancer Group, Arcadia, CA; and the Genetic Epidemiology Unit, Department of Epidemiology and Public Health, University of Leicester, Leicester, United Kingdom.

The genes at the INK4A/ARF locus at 9p21 are frequently involved in human cancer. Virtually all p16INK4A exon 2 (henceforth called p16) inactivation in pediatric acute lymphoblastic leukemia (ALL) occurs by gene deletion. The results of this study illustrate that real-time quantitative polymerase chain reaction is capable of detecting gene deletion in primary patient specimens with a precision not previously achieved by conventional methods. Importantly, this assay includes the detection of hemizygous deletions. The study revealed, strikingly, that the risk ratio for relapse for hemizygous deletion compared with no deletion was 6.558 (P = .00687) and for homozygous deletion was 11.558 (P = .000539). These results confirm and extend the authors' previous findings that homozygous deletion of p16 in pediatric ALL patients is an independent prognostic indicator of outcome from therapy.

© 2001 by The American Society of Hematology.
 

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