Tomasz Szczepanski

Tomasz Szczepanski
Medical University of Silesia in Katowice | SUM · Department of Pediatric Hematology and Oncology

MD, PhD

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350
Publications
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Publications

Publications (350)
Article
Full-text available
Minimal residual disease (MRD) enables reliable assessment of risk in acute lymphoblastic leukemia (ALL). However, little is known on association between MRD status and germline genetic variation. We examined 159 Caucasian (Slavic) patients with pediatric ALL, treated according to ALL-IC-BFM 2002/2009 protocols, in search for association between 23...
Conference Paper
Full-text available
Background Genetic abnormalities such as BCR-ABL1 translocations, MLL and CRLF2 rearrangements and IKZF1 deletions influence blast clearance during induction phase of childhood B-cell precursor ALL (BCP-ALL). Minimal residual disease (MRD) at different time-points of the induction protocol reflects chemosensitivity and may provide information about...
Conference Paper
Full-text available
Background NBN gene encodes nibrin which is a part of the MRN complex responsible for DNA double-strand brakes (DSB) repair. Homozygous mutation in NBN gene leads to rare autosomal recessive immunodeficiency associated with chromosomal instability and increased predisposition to lymphoproliferative disorders, called Nijmegen breakage syndrome (NBS)...
Article
Early onset ataxia telangiectasia (A-T) is a neurodegenerative DNA-instability disorder, which presents early in childhood. Hallmarks of A-T are progressive ataxia and a dramatic increased risk of developing malignancies (25%), especially of hematological origin. In children these malignancies mainly concern aggressive Non-Hodgkin lymphoma, acute l...
Article
Introduction The comprehensive cancer treatment increased the curability and long-term remission of malignant tumors in children. When assessing the results of treatment, one should be aware of long-term complications of anticancer therapy. The aim of this study is to present health status, socioeconomic situation, the aspect of fertility and offsp...
Article
Full-text available
An increasing number of evidences suggest a genetic predisposition in acute lymphoblastic leukemia (ALL) that might favor the occurrence of the driver genetic alterations. Such genetic background might also translate into phenotypic alterations of residual hematopoietic cells. Whether such phenotypic alterations are present in bone marrow (BM) cell...
Article
Nijmegen breakage syndrome (NBS, MIM #251260) is an autosomal recessive chromosomal instability disorder. Majority of patients affected are of Slavic origin and share the same founder mutation of 657del5 within the NBN gene encoding protein involved in DNA double-strand breaks repair. Clinically, this is characterized by a microcephaly, immunodefic...
Article
Introduction: In vitro drug resistance profile has so far provided information on chemosensitivity of leukemic cells in acute lymphoblastic leukemia (ALL) and acute myeloblastic leukemia (AML). Previous studies have shown that for most tested drugs, patients with relapse had higher IRTR than those with de novo ALL or AML. The objective of this stud...
Article
Introduction Current curative strategy for children after one or more relapses of AML or for those with primary refractory AML (ref/rel AML) should include allo-HSCT. There is no consensus regarding a choice of reinduction chemotherapy regimen to induce remission prior HSCT in these highly drug-resistant patients. It is important to prevent further...
Article
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This article reports the efficacy of percutaneous autologous leukocyte-and platelet-rich plasma (L-PRP) injection into delayed union site as a minimally invasive method alternative to bone marrow aspirate and open grafting techniques. Each of 15 participants was followed on a regular basis with clinical examinations, roentgenograms. The average tim...
Article
This nationwide multicentre study analysed the epidemiology of bacterial, viral and fungal infections in paediatric haematopoietic stem cell transplantation (HSCT) and paediatric haematology and oncology (PHO) patients over a period of 24 consecutive months, including incidence, hazard risk and outcome of infections as well as occurrence of multidr...
Article
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IntroductionNuwiq® (Human-cl rhFVIII) is a new-generation recombinant factor VIII (rFVIII) protein, without chemical modification or fusion to any other protein, produced in a human cell line.Aim/Methods This prospective, open-label, multinational phase III study assessed the efficacy and safety of Human-cl rhFVIII in 59 previously treated patients...
Conference Paper
Full-text available
Wstęp: Miejsce polimorficzne rs3824662 zlokalizowane w genie GATA-3 zostało opisane jako locus podatności zachorowania na BCR-ABL1-like ALL, nowo wyodrębniony podtyp B-komórkowej ostrej białaczki limfoblastycznej. Cel: Celem badania jest analiza związku polimorfizmu w linii germinalnej oraz ekspresji genu GATA-3 w komórkach białaczkowych z profile...
Conference Paper
Full-text available
Wstęp: Nibryna, będąca białkowym produktem genu NBN, wchodzi w skład kompleksu MRN odpowiedzialnego za naprawę pęknięć dwuniciowych DNA w komórkach. Zespół Nijmegen, dziedziczony w sposób autosomalny recesywny, wiąże się z fragmentacją nibryny na 2 niefunkcjonalne części i ponad 50-krotnie zwiększa ryzyko rozwoju zmian limfoproliferacyjnych, w szcz...
Article
Full-text available
ABSTRACT Deletions in IKZF1 are found in ~15% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). There is strong evidence for the poor prognosis of IKZF1 deletions affecting exons 4-7 and exons 1-8, but evidence for the remaining 33% of cases harboring other variants of IKZF1 deletions is lacking. In an international multi-ce...
Article
Full-text available
Chemokine receptors play a role in leukocyte recruitment, activation, and maintaining effector functions and regulate adaptive immune response and angiogenesis. The study aimed at flow cytometric analysis of T cell subsets with selected surface chemokine receptors (CCR4, CCR5, CCR7, CXCR3, and CXCR4) or receptor combination in peripheral blood of c...
Article
To analyze the incidence and outcome of infections with Staphylococcus spp. in children with malignancies treated in pediatric hematology and oncology (PHO) centers or undergoing hematopoietic stem cell transplantation (HSCT) over a period of 24 months.
Article
Cytological assessment of bone marrow remains one of the most important tests in hematology for many decades. Quite recently, in 2008, International Council for Standardization in Hematology (ICSH) published their recommendations concerning techniques of bone marrow aspiration, smear preparation and microscopic assessment rules. Based on these reco...
Conference Paper
Full-text available
Deletions in IKZF1 are found in ~15% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). There is strong evidence for the poor prognosis of IKZF1 deletions affecting exons 4-7 and exons 1-8, but evidence for the remaining 33% of cases harboring other variants of IKZF1 deletions is lacking. In an international multi-center stud...
Article
BACKGROUND. Infectious complications are a significant cause of morbidity and mortality in children receiving treatment for ALL. One of the major factors increasing the risk of bacteremia is the widespread use of central venous lines (CVL). In this study we hypothesized if there are any outcome predictors during bacteremia episodes during standard...
Article
* AP and LS contributed equally ^ TS and WM contributed equally as senior authors on behalf of the Polish Pediatric Leukemia/Lymphoma Study Group Background High MRD levels as well as adverse outcome characterize ‘’BCR-ABL 1-like’’ subtype of ALL. Nevertheless, from genetic abnormalities associated with this subtype of ALL, only IKZF1 deletions wer...
Article
BACKGROUND Cytotoxic treatment in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients induces a dramatic decrease in B-cell precursor (BCP) and mature B-cell numbers, followed by regeneration of BCPs in the bone marrow (BM) and subsequent replenishment of mature B-cells in the peripheral blood (PB) in between treatment blocks and after...
Article
BACKGROUND Deletions in IKZF1 are found in approximately 15% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). There is strong evidence for the poor prognosis of the most common IKZF1 deletions affecting exons 4-7 (DEL 4-7) and exons 1-8 (DEL 1-8), but evidence for the remaining 33% of cases harboring other variants of IKZF1...
Article
Full-text available
Studies on twins with concordant acute lymphoblastic leukemia (ALL) have revealed that ETV6-RUNX1 gene fusion is a common, pre-natal genetic event with other driver aberrations occurring subclonally and probably post-natally. The fetal cell type that is transformed by ETV6-RUNX1 is not identified by such studies or by the analysis of early B-cell l...
Article
Immunosuppressive therapy is the treatment of choice in children with acquired severe aplastic anemia (AA) and no HLA-matched family donor. The paper presents results of a multicenter study of 63 children with AA treated with rabbit antithymocyte globulin (r-ATG) and cyclosporine A as the first line treatment in the years 1996-2012. Therapeutic eff...
Article
Flow cytometric immunophenotyping has become essential for accurate diagnosis, classification, and disease monitoring in hemato-oncology. The EuroFlow Consortium has established a fully standardized “all-in-one” pipeline consisting of standardized instrument settings, reagent panels, and sample preparation protocols and software for data analysis a...
Article
Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder characterized by a high incidence of pediatric hematologic malignancies. Majority of patients affected are of Slavic origin and share the same founder mutation of 657del5 within the NBN gene encoding protein involved in DNA double-strand breaks (DSB) repair....
Article
Full-text available
Dipeptidil peptidase 4 inhibitors (DPP-4) are a group of antihyperglycemic agents. DPP-4 is an enzyme expressed on lymphocyte surface as co-stimulatory molecule in activation processes. The aim was to assess lymphocyte subpopulations initially and after 14 days of treatment with DPP-4 inhibitors sitagliptin, saxagliptin and vildagliptin. The study...
Article
Wstęp: Przeprowadzono dwie próby badawcze (w roku 1999 i 2008), w których dzieci leczone z powodu chorób nowotworowych krwi i ich rodzice oceniali przydatność i funkcjonowanie centralnych cewników dożylnych typu port-a-cath. Materiał i metody: Ogółem w badaniu udział wzięło 119 rodziców i 50 dzieci w wieku od 9 do 18 lat. W obu próbach użyto ankie...
Article
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Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable non...
Article
Background Currently, there are three major maturational stages of CD19 antigen expressing B-cell precursors (hematogones). In B-cell precursor acute lymphoblastic leukemia (BCP-ALL), the malignant counterpart of hematogones, the leukemic blasts share common phenotypic features. The aim of the study was to enumerate the actual differences between t...
Article
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Abstract Acute lymphoblastic leukemia (ALL) is the most common childhood cancer characterized by peak of incidence between 2 and 5 years. Since recently conducted genome-wide association (GWA) studies revealed that common low-penetrance susceptibility allele at 7p12.2 (IKZF1 gene) confers increased risk of pediatric ALL, we investigate whether risk...
Article
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Aim of the study Recent studies showed relatively better outcome for children with refractory (refAML) and relapsed acute myeloid leukemia (relAML). Treatment of these patients has not been unified within Polish Pediatric Leukemia/Lymphoma Study Group (PPLLSG) so far. The goal of this study is to analyze the results of this therapy performed betwee...
Article
Introduction Human-cl rhFVIIIis the first recombinant factor VIII concentrate expressed in a human cell line (Human Embryonic Kidney 293F cells). Studies in adolescent and adult pre-treated patients with severe haemophilia A showed a favorable PK profile with a median half-life of 17.1 hours (one stage assay) and indicated safety and efficacy in pr...
Article
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Clonal CD8(+)/T-cell receptor (TCR)αβ(+) T-cell large granular lymphocyte (T-LGL) proliferations constitute the most common subtype of T-LGL leukemia. Although the etiology of T-LGL leukemia is largely unknown, it has been hypothesized that chronic antigenic stimulation contributes to the pathogenesis of this disorder. In the present study, we expl...
Article
Full-text available
The paediatric population is at risk of inadequate pain management, with age-related factors affecting pain management in children. This presented study discusses the complexities of measuring paediatric pain, reviews the most well-known pain assessment scales, and emphasizes the importance of family nvolvement in situations where children are aske...
Article
Background CXCR4 (CD184) is a receptor specific to the Stromal Derived Factor 1 (SDF-1), a ligand also known as CXCL12. The ligand-receptor interaction has a pleiotropic effect on hematopoietic cell proliferation, migration and activation through several signaling pathways. CXCR4 expression on neoplastic cells might be responsible for their dissemi...
Article
Pearson marrow pancreas syndrome (PS) is a congenital multisystem disorder characterized by sideroblastic anemia, pancreatic insufficiency, metabolic acidosis, and other defects, and is caused by mitochondrial DNA (mtDNA) deletions. Diamond Blackfan anemia (DBA) is a congenital hypoproliferative anemia with associated physical malformations, and in...
Article
Introduction Acquired aplastic anemia is very rare disease characterized by and pancytopenia and hypoplastic bone marrow. In 70% of cases the etiology is idiopathic but some cases can be caused by drugs, chemical substances and viruses. One of the main pathophysiological mechanism of aplastic anemia is immune-mediated destruction of hematopoietic c...
Article
Background CXCR4 (CD184) is a receptor specific to the Stromal Derived Factor 1 (SDF-1), a ligand also known as CXCL12. The ligand-receptor interaction has a pleiotropic effect on hematopoietic cell proliferation, migration and activation through several signaling pathways. CXCR4 expression on neoplastic cells might be responsible for their dissemi...
Article
B-cells play a key role in the protection against infection, create immune memory and produce specific antibodies. Determination of specific B-cell phenotype with reference to age is important in the classification of immunodeficiency and in assessing response to vaccinations. The aim of this study was to determine by the flow cytometry the percent...
Article
Full-text available
Chromosomal rearrangements of the human MLL (mixed lineage leukemia) gene are associated with high-risk infant, pediatric, adult and therapy-induced acute leukemias. We used long-distance inverse-polymerase chain reaction to characterize the chromosomal rearrangement of individual acute leukemia patients. We present data of the molecular characteri...
Article
Full-text available
A better description of the leukemia cell surface proteome (surfaceome) is a prerequisite for the development of diagnostic and therapeutic tools. Insights into the complexity of the surfaceome have been limited by the lack of suitable methodologies. We combined a leukemia xenograft model with the discovery-driven chemoproteomic Cell Surface Captur...
Article
Kimura disease is a rare, benign, chronic disease of unknown etiology. It is characterized by recurrent tumor-like lesions in the soft tissues localized mainly in the head and neck region with peripheral eosinophilia, and elevated serum total IgE levels. The diagnosis is confirmed by histopathological examination. Kimura disease may be associated w...
Article
IntroductionDexamethasone and prednisone are basic components of treatment protocols for children with hematologic malignancies. The steroid therapy might cause temporary changes in psycho-emotional and somatic state of patients which might potentially cause anxiety among them and their parents.AimThe first aim of the study was to compare effects o...
Article
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Since 1983 four consecutive unified regimens: acute myeloid leukemia-Polish pediatric leukemia/lymphoma study group (AML-PPLLSG) 83, AML-PPLLSG 94, AML-PPLLSG 98 and AML-BFM 2004 Interim, for AML have been conducted by the Polish Pediatric Leukemia/Lymphoma Study Group (PPLLSG). In this paper, we review four successive studies on the basis of acute...
Article
The polymorphism of 14-bp tandem repeat sequence located in the ASNS gene probably acts as a transcriptional enhancer element and leads to higher expression of the gene in carriers of more than 2 repeats (>R2). We searched for an association with disease outcome in 264 children with ALL. A multivariate proportional hazard regression model adjusted...
Article
2506 Comprehensive identification of leukemia-associated cell surface molecules is required to improve the specificity and sensitivity of flow cytometric analysis of minimal residual disease. A more comprehensive map of leukemia-associated cell surface features could facilitate the selection and subsequent evaluation of new minimal residual disease...
Article
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ABSTRACT The total number of 817 ALL and 181 AML children were assessed for individualized tumor response testing (ITRT) profile as a prognostic factor in long-term follow-up. For each patient, ITRT, initial response to therapy and long-term outcome were assessed. In initial ALL, the impact on long-term response was showed for ITRT to thirteen drug...
Article
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In the manuscript authors describe the application of rasburicase in the treatment of acute kidney injury in a child with non-malignancy associated hyperuricemia and combined congenital abnormalities. Rasburicase application was safe, well tolerated and rapidly effective. The significant fall in serum uric acid levels was accompanied by rising diur...