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Abnormalities of the long arm of chromosome 6 in childhood acute
lymphoblastic leukemia
Y Hayashi, SC Raimondi, AT Look, FG Behm, GR Kitchingman, CH Pui, GK Rivera and DL Williams
Department of Pathology, St Jude Children's Research Hospital, Memphis, TN
38101.
To determine the biologic significance of the structural rearrangements of
the long arm of chromosome 6(6q) in acute lymphoblastic leukemia (ALL) at
diagnosis, we studied 412 consecutive children whose leukemic cell
chromosomes had been completely banded and identified 45 (11%) children
with this abnormality. The 45 cases were divided into del(6q) only (n =
11), del(6q) and numerical abnormalities (n = 4), del(6q) and structural
abnormalities (n = 23), and 6q translocations (n = 7). The breakpoints of
del(6q) were subgrouped: del(6)(q15q21) in 11 cases, del(6) (q13q21) in
six, del(6)(q21q23) in four, del(6)(q15) in four, del(6)(q15q23) in three,
and other deletions in 10 cases. Notably, all these deletions encompassed
the 6q21 band, suggesting that this might be the locus of a recessive tumor
suppressor gene, the absence of which contributes to malignant
transformation or proliferation. Among the seven children with 6q
translocations, a previously unidentified nonrandom translocation,
t(6;12)(q21;p13) was noted in two cases with an early pre-B
immunophenotype. Clinical features and event-free survival were similar
among children with or without 6q abnormalities. Overall, children with 6q
abnormalities were less likely than those without the abnormality to have a
pre-B immunophenotype (P = .03). T- cell immunophenotypes were equally
represented in cases with or without 6q abnormalities. However, all four
children with del(6q) and a 12p abnormality had early pre-B ALL and all
three children with del(6q) and a 9p abnormality had a T-cell
immunophenotype. The lack of specificity for a particular immunophenotype
may imply that the gene or genes affected by 6q abnormalities are broadly
active in the multistep process of lymphoid leukemogenesis. The relatively
high frequency of microscopically visible del(6q) indicates the need for
molecular studies to identify cases with submicroscopic deletions.
Volume 76,
Issue 8,
pp. 1626-1630,
10/15/1990
Copyright © 1990 by The American Society of Hematology
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