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Nonrandom involvement of the 12p12 breakpoint in chromosome abnormalities
of childhood acute lymphoblastic leukemia
SC Raimondi, DL Williams, T Callihan, S Peiper, GK Rivera and SB Murphy
We studied the presenting clinical and biologic features of 23 children
with acute lymphoblastic leukemia (ALL) whose leukemic marrow karyotypes
contained abnormalities involving the short arm of chromosome 12. Nineteen
of the abnormalities were assigned to the 12p12 breakpoint. The median age
of the children was 5 years (range 2 to 13 years) and their initial
leukocyte counts ranged from 1,800 to 424,000/microL (median
30,000/microL). Twenty-one patients (91%) had common phenotype ALL (CALLA+,
HLA-DR+), including three cases with a pre-B cell phenotype (CIg+). The
remaining two cases were T cell in origin. The French-American-British
(FAB) morphologic type of lymphoblastic leukemia was L1 in all cases but
one. With a median follow-up of 11 months, four patients have relapsed and
another failed induction therapy. The modal chromosome number in all cases
was less than 50. Three distinct cytogenetic patterns, with apparently
similar clinical manifestations, were noted: terminal deletions of
chromosome 12 in 10 cases, apparently balanced reciprocal translocations in
6, and unbalanced translocations in 7. All translocations were between the
12p arm and different donor chromosomes except for chromosomes 7, 9, and
17, which participated twice. Only two patients had identical
translocations: t(7;12)(q11;p12). This unusual variation in donor
chromosomes and breakpoints suggests that translocations involving the 12p
are specific with respect to only one member of the translocation pair,
namely chromosome 12. The relatively high frequency of the 12p
abnormalities in this study (10% of all completely banded cases seen over a
35-month period) warrants further investigation.
Volume 68,
Issue 1,
pp. 69-75,
07/01/1986
Copyright © 1986 by The American Society of Hematology

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