Περίληψη:
Background: The clinical and morphological spectrum of myelodysplastic
syndromes (MDS) during childhood has not yet been completely documented.
We herein present the clinical features and morphological data from
peripheral blood (PB), bone marrow aspirates (BMA) and bone marrow
biopsies (BMB) of a series of paediatric MDS patients, with particular
emphasis on their specific morphological characteristics and their
diverse underlying genetic background. Patients and methods: Thirty-four
patients with MDS (median age 8.45 y) were consecutively diagnosed and
treated during a period of 15 y (1988-2002). Diagnosis was based on
clinical manifestations, morphology of PB, BMA and BMB, and cytogenetic
analysis of BM cells. Clonogenic methylcellulose cell cultures were
performed in 23/34 patients. Patients were categorized into group A
[26 primary/de novo MDS, i.e. refractory anaemia (RA) 18, RA with
excess of blasts (RAEB) 2, RAEB in transformation (RAEB-t) 6] and group
B (8 secondary MDS, i.e. RA 4, RAEB 1, RAEB-t 3). Treatment options
varied according to protocols active during the period of the study and
the availability of a suitable BM donor. Survival probabilities were
estimated using the Kaplan-Meier method. Results: Dysplastic features of
the erythroid, myeloid and megakaryocytic lineage were detected at BMA
in 85%, 50% and 90% of the patients, respectively, while decreased
cellularity was found at BMB in 21/34 patients (60%). RA patients of
group A presented at BMB significant hypocellularity (14/18) as a
prominent finding due to decrease of the myeloid (13/18 patients) and/or
the megakaryocytic (14/18 patients) lineage. Hypocellularity in RA was
accompanied by dysplasia of the erythroid (17/18 patients) and
megakaryocytic (16/18 patients) lineage, the presence of abnormal
localization of immature precursors (ALIP, 8/18 patients), fibrosis
(5/18) and stromal changes (11/18). Chromosomal aberrations were
revealed in 17/34 patients, of which monosomy 7 was present in seven.
Cell cultures demonstrated abnormal myeloid and/or erythroid in vitro
clonal growth pattern in all the examined patients. An associated
disorder or inherited disease, was identified in 14/26 patients (54%)
with primary MDS. Cumulative survival of group A patients was 44.2% (RA
66.6%, RAEB/RAEBt 14.6%; p = 0.001), and of the whole group 42.4%, at
14 y.
Conclusions: Hypocellularity of significant degree is a constant and
prominent feature among paediatric MDS, especially those with RA. A
large variety of associated disorders underlies the clinical appearance
of paediatric MDS, reflecting their marked heterogeneity. RA represents
the prominent subtype during childhood (69% in this study), and it
appears to have the best prognosis, while prognosis of RAEB/RAEBt
remains extremely poor.
Συγγραφείς:
Polychronopoulou, S
Panagiotou, JP
Kossiva, L
Mavrou, A and
Anagnostou, D
Haidas, S
