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Clinical presentation, karyotypic characterization, and treatment outcome
of childhood acute lymphoblastic leukemia with a near-haploid or
hypodiploid less than 45 line
CH Pui, AJ Carroll, SC Raimondi, VJ Land, WM Crist, JJ Shuster, DL Williams, DJ Pullen, MJ Borowitz and FG Behm
Department of Hematology-Oncology, St Jude Children's Research Hospital,
Memphis, TN 38101.
Cytogenetic and DNA flow cytometric analyses of leukemic cells from 2,184
children with newly diagnosed acute lymphoblastic leukemia (ALL) identified
27 cases (1.2%) that had a hypodiploid line with fewer than 45 chromosomes
per cell. Had cytogenetic techniques been used alone, seven cases would
have been missed, compared with five if only flow cytometry had been used.
For comparative purposes, the 27 cases were divided into three groups:
near-haploid (n = 10), hypodiploid 30-40 (n = 9), and hypodiploid 41-44 (n
= 8). Blast cells from patients with near-haploid ALL lacked structural
chromosomal abnormalities; showed nonrandom retention of two copies of
chromosomes 8, 10, 14, 18, 21, and the sex chromosomes; and had a second
leukemic line with exactly twice the number of chromosomes or DNA content.
Karyotypic analysis of the hypodiploid 30-40 and hypodiploid 41-44 groups
disclosed structural abnormalities in the stemline or sideline of most of
the well-banded cases; those in the latter group were similar to findings
in cases with 45 chromosomes. As in the near-haploid group, chromosome 21
and the sex chromosomes were preferentially retained in the hypodiploid
30-40 and 41-44 cases. Except for a slight excess of female patients in the
near- haploid group and an older age at diagnosis in the hypodiploid 30-40
cases, there were no initial clinical features that distinguished these
patients from the general ALL population. Despite intensive treatment and
short follow-up, 17 of the 27 patients have relapsed. This study suggests
that the poor treatment responsiveness of hypodiploid ALL is not limited to
the more than 80% of the patients who have 45 chromosomes per leukemic cell
and demonstrates that cytogenetic and flow cytometric analyses are
complementary in the evaluation of children with ALL.
Volume 75,
Issue 5,
pp. 1170-1177,
03/01/1990
Copyright © 1990 by The American Society of Hematology
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