Joanna Zawitkowska

Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia.

Central nervous system (CNS) involvement is an independent risk factor for poor event‐free survival and relapse confined to the CNS. Knock‐out mice deprived of RAG2, the protein involved in DNA repair, developed leukemic infiltration within leptomeninges. Therefore, we hypothesized that DNA repair deficiencies in humans, such as Nijmegen breakage syndrome (NBS), may constitute a risk factor for CNS dissemination of acute lymphoblastic leukemia (ALL). Having analyzed the incidence of CNS2/CNS3 status at diagnosis of ALL in two independent cohorts from the Polish Pediatric Leukemia/Lymphoma Study Group, we noticed that among children with NBS CNS involvement was significantly frequent. Pediatr Blood Cancer 2011;57:160–162.

Outcome of acute lymphoblastic leukemia in children with down syndrome—Polish pediatric leukemia and lymphoma study group report

ABSTRACT Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group—14 patients, an intermediate-risk group—24, a high-risk group—3. All patients were treated according to ALLIC 2002 protocol. The median observation time of all patients was 6.1 years, and in patients with DS 5.3 years. Five-year overall survival (OS) was the same in all patients (86% vs 86%, long-rank test, p = .9). The relapse-free survival (RFS) was calculated as 73% in patients with DS and 81% in patients without DS during a median observation time (long-rank test, p = .3). No statistically significant differences were found in the incidence of nonrelapse mortality between those two groups of patients (p = .72). The study was based on children with ALL and Down syndrome who were treated with an identical therapy schedule as ALL patients without DS, according to risk group. This fact can increase the value of the presented results.

Clinical characteristics and analysis of treatment result in children with Ph-positive acute lymphoblastic leukaemia in Poland between 2005 and 2017

The aim of this study was to analyse the clinical characteristics and outcome of children diagnosed with Ph+ ALL.

Back pain as a first symptom of hematologic malignancy in a 9-year-old girl ☆

Abstract Described case involves 9-year-old, otherwise healthy girl, which was admitted to a local hospital due to acute back pain persisting for a couple of days. Pain appeared suddenly, without any preceding trauma, and was accompanied by fever. Physical examination was normal apart from forced, defensive back flexion. Initial laboratory tests showed elevated inflammatory markers without any additional changes in blood cell count. Patient was transferred to Rheumatology Department of Childrens Clinical Hospital in Lublin, Poland for further diagnosis and treatment. Extensive diagnostic procedures were performed, including bone scan, MRI of the spinal column and multiple laboratory tests. Pain and fever persisted despite intensive anti-inflammatory and antibiotic therapy. Changes in blood morphology led to extended oncological diagnostics. Eventually patient was diagnosed as having acute lymphoblastic leukemia (pre-B ALL).

Choroba rozrostowa układu krwiotwórczego u dzieci z zespołem ataksja–teleangiektazja (AT) – trudny problem kliniczny

STRESZCZENIE Ataksja–teleangiektazja (Louis-Bar syndrome) jest rzadkim, genetycznie uwarunkowanym zespolem niedoboru odporności dziedziczonym w sposob autosomalny recesywny. Defekt genowy dotyczy dlugiego ramienia chromosomu 11q22-23. Do charakterystycznych cech zespolu nalezy niezbornośc ruchowa, teleangiektazje zlokalizowane na skorze i galkach ocznych, niedobor odporności i sklonnośc do rozwoju nowotworow. W pracy przedstawiono przypadek wystepowania choroby rozrostowej ukladu krwiotworczego u rodzenstwa z zespolem ataksja–teleangiektazja: 6-letniej dziewczynki i 8-letniego chlopca. Dziewczynka zmarla po uplywie 3 miesiecy od rozpoznania chloniaka Hodgkina (Hodgkins lymphoma) w wyniku progresji. U chlopca rozpoznano ostrą bialaczke limfoblastyczną T-komorkową (T-cell acute lymphoblastic leukemia). Uzyskano remisje onkologiczną, w trakcie leczenia wystąpily jednak powazne, zagrazające zyciu powiklania.