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Cancer Genet Cytogenet 113:180–182 (1999)
Elsevier Science Inc., 1999. All rights reserved.
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SHORT COMMUNICATION
Trisomy 21 as the Sole Abnormality in a Refractory
Anemia with Ring Sideroblasts
David Gancberg, Alain Kentos, Jean-Louis Dargent, Candice Roufosse,
Guy Dzota, Paul Capel,
Walter Feremans, and Alain Verhest
ABSTRACT:
Numerous chromosome abnormalities have been described in myelodysplastic syndromes,
but single karyotypic aberrations are much less frequent. We report the case of a 65-year-old woman
who presented a trisomy 21 as the sole karyotypic anomaly for a refractory anemia with ring sidero-
blasts. The nature of such an anomaly is discussed in regard to pathogenesis and prognosis. © Elsevier
Science Inc., 1999. All rights reserved.
INTRODUCTION
Myelodysplastic syndromes (MDSs) are preleukemic dis-
orders resulting from the uncoupling of proliferation and
maturation in clonal hematopoietic progenitors. Numer-
ous chromosome abnormalities have been identified in
primary MDS, the most frequent ones being del(5q),
ϩ
8,
Ϫ
7/del(7q) or del(20q). In this setting, patients showing
complex chromosomal defects have been reported to be at
greater risk of short survival and leukemic transformation
than are those in whom a single defect or a normal karyo-
type is found. Furthermore, specific single chromosome
abnormalities have been shown to influence prognosis [1,
2]. In particular, trisomy 21 is frequently found in acute
myelogenous leukemia (AML) and myelodysplastic syn-
dromes, usually associated with other numerical or struc-
tural changes or both. Indeed, as an acquired clonal chro-
mosome change, trisomy 21 has been described in 6% of
hematologic disorders including malignant lymphomas
[3]. In contrast, acquired trisomy 21 as the sole karyotypic
abnormality is found in only 0.4% of neoplasms [4]. Such
an unusual finding appears occasionally as an isochromo-
some 21 rearrangement [5]. We report a patient with tri-
somy 21 as the sole anomaly in a refractory anemia with
ring sideroblasts (RARS) whose general health state seems
stable.
CASE REPORT
Herein, we report the case of a 65-year-old woman with a
long prior history of chronic anemia who had been repeat-
edly admitted to the Department of Hematology for trans-
fusions for more than a year. This anemia was first as-
signed to a thalassemia. However, this diagnosis was not
confirmed by hemoglobin electrophoresis, which was nor-
mal. Upon admission in November 1997, the white blood
cell count was 2.6
ϫ
10
3
/mm
3
, hemoglobin level was 11.1
g/dL, and the platelet count was 134
ϫ
10
3
/mm
3
. Serum
iron and ferritin levels were 210
g/dL and 2,440 ng/mL,
respectively. Mean corpuscular volume was normal, and a
low level of reticulocytes was detected. A bone marrow as-
pirate was performed and biopsy revealed a MDS further
subtyped as RARS. Indeed, megakaryocytes and erythro-
blastic lineages showed dysplastic features (Fig. 1). Perls
staining on bone marrow cells revealed 83% of ring sider-
oblasts. The patient received supportive care but no anti-
leukemic therapy. The patient is still alive.
CYTOGENETICS
Cytogenetic investigations were carried out by using stan-
dard methods. In our patient, a trisomy 21 was found as
the sole anomaly in 17 of 25 metaphases (68%) obtained
by culture at 4 hours. No other chromosomal defect was
found in Wright banding. The karyotype was then 47,XX,
ϩ
21[17]/46,XX[8] (Fig. 2).
Fluorescence in situ hybridization (FISH) was per-
formed on metaphases with a coatasome 21 total chromo-
some probe (P5221-DG.5; Oncor, Gaithersburg, MD), paint-
From the Department of Pathology, CHU Saint-Pierre/ULB
Institut Jules Bordet (D. G., J.-L. D., C. R., A. V.), Brussels, Bel-
gium; and the Department of Haematology-Oncology (A. K., W. F.)
and the Department of Immunology-Haematology (G. D., P. C.),
Hôpital Erasme, Brussels, Belgium.
Address reprint requests to: D. Gancberg, Ph.D., Department
of Pathology, Institut Jules Bordet, rue Héger-Bordet, 1000 Brus-
sels, Belgium.
Received November 16, 1998; accepted January 28, 1999.