Ocena postępowania diagnostycznego i terapeutycznego w ...

ABSTRACT
Nijmegen breakage syndrome (NBS; MIM *251260) is a rare genetic condition of
chromosomal instability characterized by microcephaly, combined immunodeficiency,
radiation hypersensitivity, and strong predisposition to malignancy at a young age, particularly
of lymphoid origin.
The aim of the study was the analysis of selected diagnostic parameters and a summary of
treatment results of non-Hodgkin lymphomas (NHLs) in NBS patients with reference to
immunocompetent children treated in the Oncology Department of the Children's Memorial
Health Institute (CMHI) in 1997-2008.
The analysis surveyed a group of 124 patients, consisting of 19 patients with NBS, aged
from 3,8 to 23,9 years (median 10,2 yrs) and 105 immunocompetent patients, aged from 1 to
18 years (median 10,2 y) who represented a reference group (RG). In both groups, NBS and
RG, the treatment process of B-cell lymphomas (according to LMB 89 and LMB 01 protocols)
and T-cell lymphomas (according to BFM 90 and EURO-LB-02 protocols) was evaluated.
Furthermore, because of a different strategy of the treatment of NBS patients before (I) and
after (II) the year 2000 (below and above 80% of proper cytostatic doses, respectively) the
results of the treatment were compared between groups I and II. Toxicity was evaluated
according to CTC AE v. 3.0. In NBS patients the immune status was also evaluated.
Statistical analysis was performed with tests matched for quantitative and qualitative
variables depending on the number of patients. A p value of