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The translocation t(1;22)(p13;q13) is a nonrandom marker specifically
associated with acute megakaryocytic leukemia in young children
T Lion, OA Haas, J Harbott, E Bannier, J Ritterbach, M Jankovic, FM Fink, A Stojimirovic, J Herrmann and HJ Riehm
CCRI, St. Anna Children's Hospital, Wien, Austria.
We present the nonrandom occurrence, frequency, and degree of
immunophenotype association of the t(1;22)(p13;q13) in children with acute
nonlymphocytic leukemia (ANLL). This karyotype anomaly occurred in leukemia
cells from five of 445 (1.1%) children with newly diagnosed ANLL who were
successfully studied by cytogenetic analysis at four European centers
between January 1987 and January 1992. The occurrence of the t(1;22) was
restricted to the French-American-British classification (FAB) subtype M7.
The overall incidence in children with acute megakaryocytic leukemia (AMKL)
was 27.8% (5/18 cases); in infants with AMKL, the frequency of the t(1;22)
was 66.7% (4/6 cases). Three of the patients carrying this anomaly had a
diploid karyotype, whereas in two cases a hyperdiploid karyotype was found.
However, in all five patients, the t(1;22) was the only translocation event
present at diagnosis. All patients received aggressive chemotherapy for
acute myelogenous leukemia (AML). Two patients died within 15 months of
diagnosis without entering remission. One of three patients who entered
remission died 7 months after diagnosis, most likely from intramedullar
hemorrhage. Only two of the five children with the t(1;22) who received
autologous bone marrow transplantation (BMT) are alive and in complete
remission (CR) 23 and 40 months after diagnosis, respectively. At the time
of diagnosis, the age of the oldest child carrying the t(1;22) was 18
months. The cases with this chromosome anomaly were compared with an
age-matched group of five children with AMKL lacking this translocation.
The patients with the t(1;22) had a lower median value of the peripheral
white blood cell (WBC) count and a higher median hemoglobin level than the
patients from the matched group. In the latter cases, normocellular or
hypercellular bone marrow (BM) was detected at diagnosis. In contrast, all
children with the t(1;22) in our series had a hypocellular BM. Histological
BM analyses were available in three of these patients and showed marked
fibrosis. Other clinical and laboratory parameters showed no obvious
differences between the matched groups. Despite intensive chemotherapy,
AMKL in children appears to be associated with a poor prognosis. The
clinical courses of the children with AMKL and the t(1;22) presented may be
indicative of a beneficial effect of autologous BMT in this subset of
patients.
Volume 79,
Issue 12,
pp. 3325-3330,
06/15/1992
Copyright © 1992 by The American Society of Hematology
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