Chronic T cell leukemia with unusual cellular characteristics in ataxia
telangiectasia
U Duhrsen, M Uppenkamp, I Uppenkamp, R Becher, M Engelhard, E Konig, P Meusers, S Meuer and G Brittinger
A 27-year-old male patient with ataxia telangiectasia (AT) developed
atypical chronic lymphocytic leukemia with increasing bone marrow
infiltration in the absence of organomegaly. One-third of the leukemia
cells expressed a mature suppressor/cytotoxic T cell phenotype (T3+ T4- T6-
T8+ T10-), two-thirds demonstrated additional helper/inducer T cell-
associated antigens (T3+ T4+ T6- T8+ T10-), and a small fraction reacted
with a natural killer (NK) cell-specific monoclonal antibody (Leu 11+). The
proliferative response to stimulation in vitro with lectins and various
monoclonal antibodies resembled the proliferation pattern of mature
thymocytes: The cells responded to phytohemagglutinin (PHA), concanavalin A
(ConA), stimulation of the T3-Ti receptor complex with Sepharose-bound
anti-T3, and stimulation of the sheep erythrocyte receptor protein with
anti-T11(2) and anti-T11(3) in conjunction with exogenous interleukin-2 (IL
2); they failed, however, to proliferate after stimulation with anti-T11(2)
and anti-T11(3) alone. There was no response in the mixed lymphocyte
reaction (MLR) and no suppression of the MLR between two healthy donors.
Antibody-dependent cell-mediated cytotoxicity and NK activity could not be
demonstrated. Cytogenetic analysis revealed complex clonal aberrations,
including an interstitial deletion of the long arm of chromosome 14
concerning bands q21-31, loss of chromosome 20, and loss of the Y
chromosome. Cytostatic chemotherapy was of little use and caused serious
side effects, whereas leukapheresis proved effective in reducing the tumor
load. The clinical data and laboratory findings in this case correspond to
three previously described patients with AT who developed chronic T cell
leukemia. Thus, in adult patients with AT, malignant proliferation of
cytogenetically marked and phenotypically heterogeneous mature T cells
seems to be a frequent complication.
Volume 68,
Issue 2,
pp. 577-585,
08/01/1986
Copyright © 1986 by The American Society of Hematology
