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Blood, Vol. 92 No. 12 (December 15), 1998:
pp. 4792-4797
Incidence of TEL/AML1 Fusion in Children With Relapsed
Acute Lymphoblastic Leukemia
Mignon L. Loh,
Lewis B. Silverman,
Mary L. Young,
Donna Neuberg,
Todd R. Golub,
Stephen E. Sallan, and
D. Gary Gilliland
From the Division of Hematology-Oncology, Brigham and Women's
Hospital, Department of Pediatric Oncology the Dana-Farber Cancer
Institute, and the Howard Hughes Medical Institute, Harvard Medical
School, Boston, MA.
The TEL/AML1 fusion associated with t(12;21)(p13;q22) is the
most common gene rearrangement in childhood leukemia, occurring in
approximately 25% of pediatric acute lymphoblastic leukemia (ALL), and
is associated with a favorable prognosis. For example, a cohort of
pediatric patients with ALL retrospectively analyzed for the
TEL/AML1 fusion treated on Dana-Farber Cancer Institute (DFCI)
ALL Consortium protocols between 1980 to 1991 demonstrated a 100%
relapse-free survival in TEL/AML1-positive patients with a
median of 8.3 years of follow-up. However, two recent studies analyzing
pediatric patients with relapsed ALL have reported the same incidence
of the TEL/AML1 rearrangement as in patients with newly
diagnosed ALL, suggesting that TEL/AML1 positivity is not a
favorable prognostic indicator. To clarify this apparent discrepancy, 48 pediatric patients treated on Dana-Farber Cancer Institute (DFCI)
protocols with ALL at first or second relapse were tested for
TEL/AML1 using reverse transcriptase-polymerase chain reaction (RT-PCR). The TEL/AML1 fusion was identified in only 1 of 32 analyzable relapsed ALL patients, in concordance with our previous
reports of improved disease-free survival in TEL/AML1-positive
patients. The low frequency of TEL/AML1-positive patients at
relapse is significantly different than that reported in other studies.
Although there are several potential explanations for the observed
differences in TEL/AML1-positive patients at relapse, it is
plausible that relapse-free survival in TEL/AML1-positive
patients may be changed with different therapeutic approaches. Taken
together, these results support the need for prospective analysis of
prognosis in TEL/AML1-positive patients.
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