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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.

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