Publications by authors named "Joanna Stefanowicz"

57 Publications

Expression of BARD1 β Isoform in Selected Pediatric Tumors.

Genes (Basel) 2021 Jan 26;12(2). Epub 2021 Jan 26.

Department of Pathology and Neuropathology, Medical University of Gdansk, 1 Debinki St., 80-211 Gdansk, Poland.

Currently, many new possible biomarkers and mechanisms are being searched and tested to analyse pathobiology of pediatric tumours for the development of new treatments. One such candidate molecular factor is (BRCA1 Associated RING Domain 1)-a tumour-suppressing gene involved in cell cycle control and genome stability, engaged in several types of adult-type tumours. The data on significance in childhood cancer is limited. This study determines the expression level of and its isoform beta (β) in three different histogenetic groups of pediatric cancer-neuroblastic tumours, and for the first time in chosen germ cell tumours (GCT), and rhabdomyosarcoma (RMS), using the qPCR method. We found higher expression of beta isoform in tumour compared to healthy tissue with no such changes concerning full-length. Additionally, differences in expression of β between histological types of neuroblastic tumours were observed, with higher levels in ganglioneuroblastoma and ganglioneuroma. Furthermore, a higher expression of β characterized yolk sac tumours (GCT type) and RMS when comparing with non-neoplastic tissue. These tumours also showed a high expression of the (Telomerase Reverse Transcriptase) gene. In two RMS cases we found deep decrease of BARD1 β in post-chemotherapy samples. This work supports the oncogenicity of the beta isoform in pediatric tumours, as well as demonstrates the differences in its expression depending on the histological type of neoplasm, and the level of maturation in neuroblastic tumours.
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http://dx.doi.org/10.3390/genes12020168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7911681PMC
January 2021

Dysgerminoma with a Somatic Exon 17 Mutation and SHH Pathway Activation in a Girl with Turner Syndrome.

Diagnostics (Basel) 2020 Dec 10;10(12). Epub 2020 Dec 10.

Department of Paediatrics, Haematology and Oncology, Clinical University Centre, 7 Debinki Street, 80-952 Gdansk, Poland.

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway.
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http://dx.doi.org/10.3390/diagnostics10121067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763800PMC
December 2020

Clinical characteristics and outcome of pediatric patients diagnosed with Langerhans cell histiocytosis in pediatric hematology and oncology centers in Poland.

BMC Cancer 2020 Sep 11;20(1):874. Epub 2020 Sep 11.

Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland.

Background: Langerhans cell histiocytosis (LCH) affects 1-2 in 1,000,000 people. The disease is not associated with increased risk of treatment failure (especially among older children), but appropriate procedures implemented in advance can eliminate complications which might appear and significantly worsen the patients' quality of life. Thus, we sought to evaluate the clinical features, management, and outcome of children with LCH treated in Polish pediatric hematology-oncology centers.

Materials And Methods: One hundred eighty two patients with LCH were treated according to the Histiocytic Society Guidelines between 2010 and 2017. The participating centers were requested to provide the following data: demographic, clinical, as well as local or systemic treatment data and patients' outcome. Overall survival (OS) and event free survival (EFS) were estimated by Kaplan-Meier methods and compared using the log-rank test.

Results: Sixty nine percent of children were classified as single system (SS). The patients with SS disease were significantly older as compared to the children with multisystem disease (MS), 6 vs. 2.3 years respectively (p 0.003). Bones were involved in 76% of patients. Systemic treatment was applied to 47% of children with SS disease and 98% with MS disease. Fourteen patients relapsed while two children died. OS and EFS in entire group were 0.99 and 0.91 respectively (with median follow-up 4.3 years).

Conclusion: The treatment of LCH in Polish centers was effective, however, new approaches, including mutation analyses and good inter-center cooperation, are needed to identify patients who might require modification or intensification of treatment.
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http://dx.doi.org/10.1186/s12885-020-07366-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488688PMC
September 2020

Selected Matrix Metalloproteinases (MMP-2, MMP-7) and Their Inhibitor (TIMP-2) in Adult and Pediatric Cancer.

Diagnostics (Basel) 2020 Jul 31;10(8). Epub 2020 Jul 31.

Department of Pediatrics, Hematology and Oncology, Faculty of Medicine, Medical University of Gdańsk, 7 Dębinki Street, 80-952 Gdańsk, Poland.

The tumor microenvironment (TME) consists of numerous biologically relevant elements. One of the most important components of the TME is the extracellular matrix (ECM). The compounds of the ECM create a network that provides structural and biochemical support to surrounding cells. The most important substances involved in the regulation of the ECM degradation process are matrix metalloproteinases (MMPs) and their endogenous inhibitors (tissue inhibitors of metalloproteinases, TIMPs). The disruption of the physiological balance between MMP activation and deactivation could lead to progression of various diseases such as cardiovascular disease, cancer, fibrosis arthritis, chronic tissue ulcers, pathologies of the nervous system (such as stroke and Alzheimer's disease), periodontitis, and atheroma. MMP-TIMP imbalance results in matrix proteolysis associated with various pathological processes such as tumor invasion. The present review discusses the involvement of two MMPs, MMP-2 and MMP-7, in cancer pathogenesis. These two MMPs have been proven in several studies, conducted mostly on adults, to make an important contribution to cancer development and progression. In the current review, several studies that indicate the importance of MMP-TIMP balance determination for the pediatric population are also highlighted. The authors of this review believe that carrying out biochemical and clinical studies focused on metalloproteinases and their inhibitors in tumors in children will be of great relevance for future patient diagnosis, determination of a prognosis, and monitoring of therapy.
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http://dx.doi.org/10.3390/diagnostics10080547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460349PMC
July 2020

Undifferentiated sarcoma of the liver: Multicenter international experience of the Cooperative Soft-Tissue Sarcoma Group and Polish Paediatric Solid Tumor Group.

Pediatr Blood Cancer 2020 11 24;67(11):e28598. Epub 2020 Jul 24.

Department of Pediatric Surgery and Pediatric Urology, University Children's Hospital, Tuebingen, Germany.

Background: Undifferentiated embryonal sarcomas of the liver (UESL) are extremely rare and continue to pose a diagnostic and therapeutic challenge. The aim of the study was to present a multicenter experience of the German CWS and Polish PPSTG groups in the treatment of UESL in children.

Procedure: Twenty-five patients were treated according to the CWS-96, CWS-2002, and CYVADIC protocols. Distant metastases were observed in four cases (16%). In four cases, an initial disease presentation mimicked other entities. A pure cystic appearance of liver mass led to misdiagnosis of hydatid cyst in three cases. In one case, laparotomy was performed due to the signs of appendicitis, and bleeding from ruptured liver tumor was found. All these patients were finally diagnosed as UESL.

Results: Thirteen patients received preoperative chemotherapy. Partial response was observed in 10 cases. Tumor resection was performed in 20 patients (primary resections, 12; delayed resections-, 8). In five patients, the primary tumor never became operable. The macroscopically complete resection rate was 95% (19/20). Postoperative chemotherapy was given to 20 children. Local radiotherapy was used in three children. After a median follow-up time of 136 months, 17 patients (68%) were alive with no evidence of disease. All children with unresectable tumor and three out of four patients with distant metastases died. The five-year overall survival (OS) rate was 72%.

Conclusions: In summary, a complete tumor excision plays the central role in the treatment of UESL. A cystic presentation of the liver lesion on imaging does not exclude the diagnosis of malignant tumor.
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http://dx.doi.org/10.1002/pbc.28598DOI Listing
November 2020

Fertility education for adolescent cancer patients: Gaps in current clinical practice in Europe.

Eur J Cancer Care (Engl) 2020 Sep 21;29(5):e13279. Epub 2020 Jun 21.

Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health (BIH), Berlin, Germany.

Objective: As adolescent cancer patients may suffer from infertility following treatment, fertility counselling is essential. Our aim was to explore the current situation in four European countries in terms of (I) education about the risk for infertility, (II) counselling on fertility preservation, (III) patients' knowledge on fertility, (IV) sufficiency of information and (V) uptake of cryopreservation.

Methods: In total, 113 patients (13-20 years) at 11 study centres completed a self-report questionnaire three and six months after cancer diagnosis. Multivariate logistic regression was used to estimate odds ratios (OR) with 95% confidence intervals (CI).

Results: As many as 80.2% of participants reported having received education about the risk for infertility prior to treatment, 73.2% recalled counselling on fertility preservation. Only 52.3% stated they felt sufficiently informed to make a decision. Inability to recall counselling on fertility preservation (OR = 0.03, CI: 0.00-0.47) and female gender (OR = 0.11, CI: 0.03-0.48) was associated with lower use of cryopreservation, whereas older age was associated with higher use.

Conclusion: Fertility counselling was available to a relatively high proportion of patients, and it did influence the utilisation of cryopreservation. However, many patients did not feel sufficiently informed. Further improvement is needed to enable adolescent cancer patients to make an informed decision on fertility preservation.
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http://dx.doi.org/10.1111/ecc.13279DOI Listing
September 2020

Factors affecting the prevalence of overweight and obesity in children with Down syndrome.

Minerva Pediatr 2020 May 15. Epub 2020 May 15.

Department of Pediatric and Internal Nursing, Institute of Nursing and Midwifery, Faculty of Health Sciences with Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Gdansk, Poland.

Background: The aim of this study was to determine the influence of environmental factors on the occurrence of overweight and obesity in children with Down syndrome.

Methods: The study was conducted in a group of children with Down syndrome under the care of the Genetic Clinic in Gdansk from May 2017 to December 2018.

Results: The study included 26 female patients and 22 male patients with Down syndrome, aged 7 to 18 years. The children were divided into two groups: group 1, with normal body weight and underweight, and group 2, with obesity and overweight. Overweight and obesity were diagnosed in 19% of children with Down syndrome. The BMI analysis of the parents showed that the fathers of children with obesity and overweight had a higher BMI (p=0.043). In the group of children with overweight and obesity, obesity was more common in siblings (p=0.029), and sucking disorders were less frequent in the infancy period (p=0.015). Childrenwith obesity and overweight were more likely to eat white bread (p=0.039), milk and other dairy products (p=0.04), and eggs (p=0.029) and ate more often between meals (p=0.022).

Conclusions: 1. In families of children with Down syndrome affected by overweight and obesity, nutritional disorders were more frequent in the other members of the family. 2. More frequent unhealthy dietary choices were found in children with Down syndrome affected by overweight and obesity than in children with a normal body weight and underweight. 3. It is necessary to educate families about the principles of a healthy lifestyle, as it can improve the quality of life of patients with Down syndrome and the whole family.
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http://dx.doi.org/10.23736/S0026-4946.20.05694-7DOI Listing
May 2020

Fertility-Related Wishes and Concerns of Adolescent Cancer Patients and Their Parents.

J Adolesc Young Adult Oncol 2020 02 17;9(1):55-62. Epub 2019 Oct 17.

Department of Pediatrics, Division of Oncology and Hematology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Within a multicenter European study, we explored fertility-related wishes, concerns, and decision-making of adolescent cancer patients and their parents. Patients and parents were each asked to complete a fertility-related questionnaire 3 months after initial diagnosis. In total, 113 of 142 (79.6%) eligible patients participated; 53.1% were male and the median age was 16 years (range 13-20 years). The questionnaire was completed by 111 parents. Univariate analyses were conducted using nonparametric methods with alpha = 5%. For multivariate analyses, binary logistic regression was conducted. Both patients (86.1%) and parents (96.3%) indicated a strong desire for biological parenthood for themselves/their children. Female patients (odds ratio [OR] = 3.70; confidence interval [CI]: 1.43-9.50) and parents (OR = 2.70; CI: 1.21-6.00) were more likely to report a high fear of cancer recurrence. Patients who estimated their risk for fertility impairment being high were more likely to be concerned about their fertility (OR = 5.69; CI: 1.41-22.98). Parents who received fertility preservation information were more likely to recommend its use to their children (OR = 5.50; CI: 1.07-28.40), whereas parents of female patients were less likely to do so (OR = 0.13; CI: 0.03-0.61). The prospect of fertility following cancer treatment is important for adolescent cancer patients and their parents, yet it is associated with many concerns. Counseling regarding fertility preservation can be more effective when the individual needs of patients and their parents are taken into consideration.
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http://dx.doi.org/10.1089/jayao.2019.0064DOI Listing
February 2020

The influence of different intensity of treatment on hormonal markers of gonadal function in acute lymphoblastic leukemia survivors.

Hematol Oncol 2019 Dec 11;37(5):609-616. Epub 2019 Nov 11.

Department of Pediatric Laboratory Diagnostics, Medical University of Bialystok, Białystok, Poland.

Anti-cancer treatment in children can deteriorate gonadal function and affect future fertility. We analyzed the hormonal markers of gonadal function in adolescent leukemia survivors, treated in childhood with different levels of aggressiveness. We analyzed hormone levels in 69 adolescents and young adults, leukemia survivors stratified into standard (SR), intermediate (IR), and high (HR) risk groups, and in 80 healthy controls (38 men) at a similar age. We assessed follicular stimulating hormone (FSH), luteinizing hormone (LH), and inhibin B in the whole group, testosterone in males, and E2 and anti-Müllerian hormone (AMH) in females. Males classified into HR group presented, in comparison to control, higher levels of FSH, LH, lower inhibin B, and normal testosterone, whereas in SR and IR group, the hormonal values were comparable to the control. In females, in all risk groups, the levels of FSH, LH, E2, and inhibin B were comparable with the control, but the mean AMH levels were slightly lowered. We did not observe the effect of prophylactic cranial irradiation (12 or 18 Gy) or the time of treatment (before vs. during puberty) on hormone levels. In females, a positive correlation was found between the time interval after the end of treatment and AMH levels. Male leukemia survivors having undergone more intensive chemotherapy show the symptoms of disturbed spermatogenesis and need to be followed-up in the future. Women, irrespective of the risk group, can develop the signs of preterm ovarian insufficiency. They should be informed about the impact of the treatment on gonadal function.
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http://dx.doi.org/10.1002/hon.2681DOI Listing
December 2019

Determinants of utilization of cryopreservation of germ cells in adolescent cancer patients in four European countries.

Eur J Pediatr 2020 Jan 7;179(1):51-60. Epub 2019 Sep 7.

Charité - Universitätsmedizin, Berlin, Germany.

Infertility is a relevant late-effect following cancer treatment; yet, a large proportion of survivors cannot recall having been informed of this risk. In an intervention study, we examined if and how supportive patient information material on fertility/fertility-preserving measures influences utilization of cryopreservation in adolescent cancer patients. The control group, recruited 03/2014-01/2016, received the usual patient education at initial diagnosis. The intervention group, recruited 04/2016-10/2017, received patient education supported by a fertility flyer and brochure. Patients and parents were each asked questions on utilization of cryopreservation in a questionnaire 3 and 6 months after initial diagnosis. Patient core and therapy data were obtained from medical records. Overall, cryopreservation rates showed no significant difference between the control (32.7%, n = 37/113) and intervention group (36.6%, n = 37/101). In the control group, cryopreservation was associated with gender (OR 0.100, CI 0.023-0.427), age (OR 1.559, CI 1.077-2.258) and recalling information on fertility protection (OR 33.663, CI 2.100-539.574); in the intervention group, cryopreservation was related to gender (OR 0.093, CI 0.026-0.330) and the estimated infertility risk (OR 43.665, CI 2.157-883.974).Conclusion: Cryopreservation rates did not overall increase following the intervention; however, the individual risk seemed to be brought into attention more: Those at risk, including younger patients, cryopreserved at higher rates.What is Known:•Infertility is a relevant late-effect following adolescent cancer.•Guidelines recommend to offer fertility protection before cancer treatment.•A relevant proportion of adolescents with cancer are not aware of this risk.•Fertility protection seems under-used in cancer patients at risk for infertility.What is New:•Information material on fertility and protection in adolescents did not increase overall rates of cryopreservation.•Cryopreservation rates were improved according to individual risk for infertility.•Our flyers and brochures on fertility in cancer patients are available in various languages.
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http://dx.doi.org/10.1007/s00431-019-03459-9DOI Listing
January 2020

Fertility knowledge and associated empowerment following an educational intervention for adolescent cancer patients.

Psychooncology 2019 11 4;28(11):2218-2225. Epub 2019 Sep 4.

Boyne Research Institute, Drogheda, Ireland.

Introduction/objectives: Fertility preservation is a major concern for adolescent cancer patients; yet, educational gaps remain. Our intervention study examined whether specially designed educational materials regarding fertility preservation increase knowledge and empowerment of patients and parents.

Methods: Eleven paediatric-oncological centres in four European countries agreed to enrol all eligible patients and parents in a questionnaire survey at 3 and 6 months after diagnosis. Treating physicians were surveyed on their medical consultation regarding fertility.

Results: Educational intervention increased knowledge in both patients (n = 113 and n = 101 in the control and intervention groups, respectively) and parents (n = 111 and n = 99 in the control and intervention groups, respectively), but the difference did not achieve statistical significance (knowledge difference patients: 5.6% (t0)/13.1% (t1); parents: 6.4% (t0)/3.8% (t1)). Parents of older patients (OR = 1.3, 95%CI = 1.1-1.7) and higher educational groups (OR = 6.2, 95%CI = 2.1-18.3) in the intervention group (OR = 1.9, 95%CI = 1.03-3.7) achieved higher knowledge levels. Empowerment was significantly improved in both patients (p = 0.046, d = 0.27) and parents (p = 0.046, d = 0.48) in the intervention group.

Discussion/conclusions: In our study, the use of specifically prepared flyers and brochures successfully raised the level of fertility preservation knowledge in parents of older patients as well as parents with higher educational levels. Overall, the intervention improved patient and parent empowerment. Subsequent projects will include simpler information and digital material to particularly reach out to younger and less educated individuals.
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http://dx.doi.org/10.1002/pon.5210DOI Listing
November 2019

Rosai-Dorfman disease as a rare cause of cervical lymphadenopathy - case report and literature review.

Cent Eur J Immunol 2018 30;43(3):341-345. Epub 2018 Oct 30.

Department of Paediatrics, Haematology, and Oncology, University Clinical Centre in Gdansk, Poland.

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by the overproduction and accumulation of histiocytes, primarily in the lymph nodes, although it may affect every organ and system. It predominantly affects children and young adults. Typically, patients are in good general condition, with massive cervical lymphadenopathy and fever. In about 40% of cases extranodal localisation of RDD is diagnosed. In laboratory tests the most common abnormalities are increased erythrocyte sedimentation rate (ESR), leukocytosis with neutrophilia, normocytic anaemia, and hypergammaglobulinaemia. Histopathological examination remains the mainstay of diagnosis - lymph nodes have massive sinusoidal dilation, containing histiocytes positive for S-100 and CD68, and negative for CD1a. Most patients do not require treatment as spontaneous remissions are observed. We present a brief review of the literature and the case of a six-year-old boy with cervical lymphadenopathy diagnosed with RDD. So far, the patient has not required systemic treatment and has been kept under observation.
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http://dx.doi.org/10.5114/ceji.2018.80055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305605PMC
October 2018

PanCareLIFE: The scientific basis for a European project to improve long-term care regarding fertility, ototoxicity and health-related quality of life after cancer occurring among children and adolescents.

Eur J Cancer 2018 11 29;103:227-237. Epub 2018 Sep 29.

German Childhood Cancer Registry (GCCR), Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center, Mainz, Germany.

Aims: Survival after cancer diagnosed during childhood or adolescence continues to improve with new treatments and supportive therapies. Optimal long-term care requires that risks to vulnerable organs are clearly defined and translated into guidelines that are implemented into practice. PanCareLIFE is a pan-European consortium that addresses survivorship issues comprising fertility, hearing impairment and quality of life. This article describes the scientific basis of PanCareLIFE's studies.

Methods: PanCareLIFE involves 17 partner institutions from eight European countries, with additional 11 data providers from five other countries. Study designs and methods include molecular genetic, cohort and case-control studies, a longitudinal study and an intervention study. Ethics and data protection issues have been taken into account from the beginning.

Results: PanCareLIFE will investigate the way that treatment impairs female fertility, by evaluating anti-Müllerian hormone levels and the underlying genetic susceptibility to loss of fertility. For our fertility studies, more than 6000 survivors have completed questionnaires, more than 1500 provided serum samples and more than 400 case-control triads have been identified. Fertility preservation guidelines for boys and girls will be developed. More than 2000 survivors have contributed audiograms for the ototoxicity study. Almost 1000 samples were sent for genetic analysis related to ototoxicity and gonadal reserve. The SF-36 questionnaire will measure quality of life in more than 10,000 survivors.

Conclusions: The large number of subjects enrolled in PanCareLIFE and the detailed information accumulated will allow in-depth evaluation of important outcomes. Fertility preservation guidelines will help patients and their families make informed decisions and contribute to their long-term well-being.
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http://dx.doi.org/10.1016/j.ejca.2018.08.007DOI Listing
November 2018

Sonographic Image of Solitary Kidney in Wilms Tumour Survivors.

Kidney Blood Press Res 2018 28;43(4):1363-1374. Epub 2018 Aug 28.

Department of Paediatrics, Haematology and Oncology. Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Torun, Poland.

Background/aims: This study presents an analysis of the sonographic and laboratory parameters of solitary kidney in Wilms tumour survivors (TWs) and compares these parameters with those of healthy individuals.

Methods: Fifty-three TWs who completed treatment for Wilms tumour and 44 healthy individuals were enrolled. The study protocol consisted of completing a medical history, sonographic examination of the solitary kidney, estimation of glomerular filtration rate (eGFR) by the Schwartz or MDRD formulas, albumin urine excretion and BP measurement.

Results: Sonographic signs of kidney damage were observed in 22 (41,5%) TWs. The most frequently detected abnormalities are hyperechoic rings around renal pyramids (28,3% TWs). Hypertrophy of the solitary kidney occurred in 71,7% of cases. The mean volume of the solitary kidney was 77% of the sum of the two kidney volumes in the control group. The median eGFR in the TWs group was 117 with 25Q-105,5, 75Q-130 ml/min/1,73 m2 vs 131,8 with 25Q-124, 75Q-140 ml/min/1,73 m2 in the control group (p=0,000). Six TWs (11,3%) had a value of eGFR below 90 ml/min/1,73 m2. Increased urine albumin excretion (> 30 mg/g) was observed in 7 TWs (13,2%) and in 3 (6,8%) individuals in the control group.

Conclusion: Ultrasonographic abnormalities in solitary kidney of TWs are frequent. The most frequently detected abnormalities are hyperechoic rings around renal pyramids. Sonographic examination of TWs ought to be performed not only to detect tumour recurrence but also to assess the signs of kidney damage and their progression.
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http://dx.doi.org/10.1159/000492951DOI Listing
November 2018

The Role of a School Nurse in the Care of a Child with Diabetes Mellitus Type 1 - The Perspectives of Patients and their Parents: Literature Review.

Zdr Varst 2018 Jun 21;57(3):166-174. Epub 2018 Jun 21.

Medical University of Gdansk, Faculty of Medicine, Department of Paediatrics, Haemathology & Oncology, Debinki 7, 80-211 Gdansk, Poland.

Introduction: The aim of this literature review was to explore the views of parents and children with type 1 diabetes mellitus regarding having a school nurse.

Methods: Six databases were selected for the analysis. The research strategy was based on the PICO model. The research participants were children with type 1 diabetes mellitus and/or their parents.

Results: The present review of research papers includes 12 publications. The majority of works deal with the perspectives of children with type 1 diabetes and their parents on various aspects related to the role of a school nurse in the care of a child with type 1 diabetes:the presence of a school nurse;the role of a school nurse in the prevention and treatment of hypoglycaemia, in performing the measurements of blood glucose, and in insulin therapy;the role of a nurse in improving metabolic control of children with type 1 diabetes;a nurse as an educator for children with type 1 diabetes, classmates, teachers, teacher's assistants, principals, administrators, cafeteria workers, coaches, gym teachers, bus drivers, and school office staff;a nurse as an organiser of the care for children with type 1 diabetes.

Conclusions: According to parents and children with type 1 diabetes mellitus, various forms of school nurse support (i.e., checking blood glucose, giving insulin, giving glucagon, treating low and high blood glucose levels, carbohydrate counting) are consistently effective and should have an impact on the condition, improvement of metabolic control, school activity and safety at school.
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http://dx.doi.org/10.2478/sjph-2018-0021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032180PMC
June 2018

Malignant Gliomas as Second Neoplasms in Pediatric Cancer Survivors: Neuropathological Study.

Biomed Res Int 2018 1;2018:4596812. Epub 2018 Apr 1.

Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, Poland.

This study presents a unique series of malignant supratentorial gliomas in children previously cured from non-CNS primary cancer. On neuroimaging these tumors were not specific, so the patients were suspected of cerebral recurrence of their primary neoplasm: leukemia in four children and sarcoma in one child. Histologically, the group contained four glioblastomas and one anaplastic astrocytoma. Three patients underwent neurosurgical resection, while the other two underwent stereotactic diagnostic biopsy only. Despite combined oncological treatment, four children died during 20 months, and only one glioblastoma patient continued to live for another twelve years. Microscopically, the neoplasms consisted of small cells with some morphologic features of astrocytic lineage, having scanty or prominent processes. Microvascular proliferation and focal or diffuse necrosis were encountered in four cases. The GFAP reactivity in neoplastic cells was low or nil, together with the expression of Olig2, vimentin, and nestin. In two cases a subpopulation of synaptophysin-positive cells was present. Molecular immunohistochemical profiling revealed the expression of phosphorylated forms of PI3Kp110 and AKT, in parallel to a strong PTEN and p53 positivity. The tumors were of IDH1R132H-wild type and immunoreactive for ATRX, HER3, and EGFR. Secondary malignant gliomas in pediatric cancer survivors pose a diagnostic challenge. The present study shows that these tumors are of IDH wild type, PI3K/AKT-activated, having no PTEN and EGFR mutations. Therefore, the biopsy of brain tumors in such patients is crucial both for accurate diagnosis and material preservation for molecular typing.
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http://dx.doi.org/10.1155/2018/4596812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899852PMC
October 2018

Langerhans cell histiocytosis in children - a disease with many faces. Recent advances in pathogenesis, diagnostic examinations and treatment.

Postepy Dermatol Alergol 2018 Feb 20;35(1):6-17. Epub 2018 Feb 20.

Department of Dermatology, Venereology, and Allergology, Medical University of Gdansk, Gdansk, Poland.

Langerhans cell histiocytosis is a rare clonal disease characterized by the proliferation of CD1a-positive immature dendritic cells. The purpose of this article was to present an updated review of recent advances in the pathogenesis, clinical features, imaging and treatment of this disease. The discovery of oncogenic BRAF mutations and the presence of proinflammatory cytokines and chemokines confirmed the unusual characteristics of this disease. Currently, children with organ involvement who do not have a good response to chemotherapy and have neurodegeneration or diabetes insipidus are the most problematic patients. Further research is needed to improve the results of treatment.
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http://dx.doi.org/10.5114/pdia.2017.67095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5872238PMC
February 2018

Reconstructive option after radical mutilating surgery in children with genitourinary rhabdomyosarcoma: When sparing the bladder is not an option.

Int J Urol 2016 08 15;23(8):679-85. Epub 2016 May 15.

Department of Surgery and Urology for Children and Adolescents, Medical University of Gdansk, Gdansk, Poland.

Objectives: To present versatile surgical reconstructive techniques and their outcomes in pediatric patients with genitourinary rhabdomyosarcoma.

Methods: We retrospectively analyzed the oncological and urological outcomes of seven patients treated between 1992 and 2014 according to the Cooperative Weichteilsarkom Studiengruppe protocols. Intergroup Rhabdomyosarcoma Study staging: local, six patients; and IV, one patient.

Histology: embryonal, five patients; unclassified, one patient; triton tumor one patient. Surgical treatment included: cystectomy, uterectomy and partial vaginectomy, one patient; radical cystectomy, two patients; cystectomy, one patient; cystectomy with partial prostatectomy, one patient; partial cystectomy, one patient; and partial prostatectomy, one patient.

Results: All patients were alive in complete remission at last follow up. In four cases, ileal conduit with ureteral reimplantation with serous-lined extramural tunnel (Abol-Enein technique) was carried out, which was followed by conversion into ileal continent bladder with continent appendiceal stoma for clean intermittent catheterization in three patients. In one boy, partial cystectomy and continent reconstruction was carried out during a single surgical procedure. One child with incontinent urinary diversion is still awaiting a continence solution. One child after partial prostatectomy is continent without any voiding disturbances.

Conclusions: The timing and extent of radical surgery for treatment of genitourinary rhabdomyosarcoma depend on the local anatomical conditions, and the response to previous chemo- and radiotherapy. Cystectomy followed by various reconstructive techniques still remains an important option in the local treatment.
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http://dx.doi.org/10.1111/iju.13120DOI Listing
August 2016

A need for cautious interpretation of elevated serum germ cell tumor markers in children. Review and own experiences.

Biomark Med 2015 1;9(9):923-32. Epub 2015 Sep 1.

The English Division Pediatric Oncology Scientific Circle, Medical University of Gdansk, Poland.

Protocols for pediatric germ cell tumors (GCT) allow for chemotherapy (CHT) initiation without histological diagnosis, based on typical clinical and radiological picture and increased alphafetoprotein (AFP) or beta-human chorionic gonadotropin serum levels. Such strategy may result in misdiagnoses in rare cases. We present two patients with abdominal tumors and high serum AFP levels, diagnosed as GCT. In both, no tumor shrinkage and increasing AFP was observed after first cycles of multidrug CHT for pediatric GCT. Histological examination of biopsied tumor tissues revealed metastatic cholangiocarcinoma in patient 1 and pancreatoblastoma in patient 2, which implicated immediate change of therapy. Presented cases support the necessity to consider the tumor biopsy when patients diagnosed with GCT based on typical clinical presentation and elevated AFP do not respond to CHT with AFP decrease and tumor size reduction.
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http://dx.doi.org/10.2217/bmm.15.42DOI Listing
July 2016

Clinical factors in relapses of Wilms' tumor--results for the Polish Pediatric Solid Tumors Study Group.

Adv Clin Exp Med 2014 Nov-Dec;23(6):925-31

Department of Emergency Medicine, Wroclaw Medical University, Poland; Department of Pediatric Surgery, Marciniak Hospital, Wrocław, Poland.

Background: The risk factors responsible for recurrences of Wilms' tumor (nephroblastoma) are still under discussion. The aim of the study was to analyze the relationship between relapses of Wilms' tumor and the patients' clinical history.

Material And Methods: Clinical data from children registered in the Polish Pediatric Solid Tumors Study Group were analyzed. The clinical stages (CS), pathology variants (high risk: HR, intermediate risk: INT, and low risk: LOW) and chemotherapy regimens were correlated with the outcomes.

Results: Recurrences developed in 34 out of 288 (11.8%) patients with Wilms' tumor treated in accordance with International Society for Pediatric Oncology 2001 (SIOP 2001) protocols. Of these 34 patients, 11 initially had CS I, seven were at CS II, four were at CS III, 11 were at CS IV and one had CS V. There were eight patients with second recurrences; of these, seven were in the INT risk group and one in the high histological risk group. There was no correlation between age (p=0.256) or gender (p=0.538) and the risk of tumor recurrence. In the study group, seven out of 10 patients with local recurrences are alive; as are 13 out of 22 patients with distant recurrences (p=0.703). Those who died due to disease progression comprised six out of 26 patients with a first recurrence (four HR, two INT), and seven out of eight with a second recurrence (one HR, six INT).

Conclusions: The prognosis after relapse in initially metastatic patients did not differ from that in patients who had primarily localized disease. The pathology variants probably had more significance.
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http://dx.doi.org/10.17219/acem/37340DOI Listing
April 2015

Renal function and low-molecular-weight proteins (cystatin C, β2-microglobulin, neutrophil gelatinase-associated lipocalin) in child and young adult cancer survivors.

J Pediatr Hematol Oncol 2012 Aug;34(6):461-6

Department of Pediatrics, Hematology, Oncology, Endocrinology, Medical University of Gdansk, Bydgoszcz, Poland.

Background: We sought to verify the hypothesis that children and young adults with cancer who have completed treatment differ according to the type and degree of renal damage.

Procedure: This study included 144 children and young adults (73 female) who had completed treatment for leukemias and lymphomas (group L, n=45), Wilms tumor (group W, n=52) and other solid tumors (group S, n=47). The following parameters were evaluated: serum concentrations of creatinine, cystatin C, β2-microglobulin, neutrophil gelatinase-associated lipocalin and urine excretion of albumin, and urinalysis with sediment. Glomerular filtration rate (eGFR) was estimated using the classic Schwartz (eGFRSch), Schwartz redux (eGFRSchred), and Filler (eGFRFiller) formulas and with the new Schwartz equation for patients with chronic kidney disease (eGFRSchCKD).

Results: Group S had the lowest eGFRSchCKD and eGFRFiller, the highest serum cystatin C and the highest albumin excretion compared with groups L and W. Groups S and W had lower eGFRSch and eGFRSchred and higher serum β2-microglobulin and neutrophil gelatinase-associated lipocalin compared with group L. Group W had lower eGFRSchCKD than group L.

Conclusions: Children and young adults with cancer who have completed treatment differ in the type and degree of renal damage they sustain.
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http://dx.doi.org/10.1097/MPH.0b013e318257fd89DOI Listing
August 2012

Brain metastases in paediatric patients: characteristics of a patient series and review of the literature.

Folia Neuropathol 2011 ;49(4):271-81

Department of Paediatrics, Haematology, Oncology and Endocrinology, Medical University of Gdańsk, Poland.

In contrast to the occurrence of brain metastases advanced malignant tumours in adult cancer patients, the dissemination of solid tumours to the brains of paediatric cancer patients is very uncommon. We present a neuro-pathological and clinical study of a group of children and adolescents with brain metastases (BM) from extracranial solid malignancies. The analysed patients were diagnosed with soft tissue sarcomas (three), germ cell tumours (three), or osteosarcoma, neuroblastoma, clear cell sarcoma of the kidney, or pleuropulmonary blastoma (one each). In our series, BM frequently coexisted with pulmonary metastases. Three different metastatic patterns were discernible: a solitary tumour, multiple lesions and diffuse parenchymal dissemination. Two cases showed haemorrhagic presentation. Most of the children died due to BM progression, while children with germ cell tumours showed the best prognosis. The histopathological pictures of BM can be different from the primary tumour, showing dedifferentiation or a diverse neoplastic component. The autopsy examination can still be helpful in the final diagnosis of certain cases with atypical clinical presentations.
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May 2012

Renal function and solitary kidney disease: Wilms tumour survivors versus patients with unilateral renal agenesis.

Kidney Blood Press Res 2012 24;35(3):174-81. Epub 2011 Nov 24.

Department of Paediatrics, Haematology, Oncology and Endocrinology, Medical University of Gdansk, Gdansk, Poland.

Aims: To test the hypothesis that Wilms tumour survivors (WTs) experience increased disturbance in renal function, even after prompt treatment, compared to patients with unilateral renal agenesis (URA).

Methods: To assess the renal function of 30 WTs and 17 individuals with URA, the estimated glomerular filtration rate (eGFR) was calculated using the Schwartz and Filler formulas as well as the new Schwartz equation for chronic kidney disease. To measure kidney damage, serum levels and urine excretion of β(2)-microglobulin (B2M), cystatin C (Cys C), neutrophil gelatinase-associated lipocalin (NGAL) were tested, N-acetyl-β-glucosaminidase (NAG), and albumin urine excretion and urine sediment were examined. Blood pressure was measured.

Results: No differences were found between the groups in terms of eGFR, serum Cys C, B2M and NGAL concentrations. The urine excretion of Cys C, NGAL and NAG was similar in both groups. URA patients had higher B2M excretion than WTs. Arterial hypertension was present in 7/30 (23%) WTs and 1/17 (6%) patients with URA.

Conclusions: WTs have similar eGFR to individuals with URA and are more likely to have arterial hypertension. The patients with URA have signs of tubular damage. This study demonstrates the need for nephrological monitoring of individuals with a single kidney.
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http://dx.doi.org/10.1159/000332083DOI Listing
February 2013

Methemoglobinemia in postchemotherapy stomatitis topical treatment: 2 pediatric cases.

J Pediatr Hematol Oncol 2012 Mar;34(2):137-9

Department of Hematology, Oncology and Endocrinology, Medical University of Gdansk, Poland.

Methemoglobinemia is a rare congenital or acquired disease of increased blood methemoglobin concentration. We documented 2 cases of children suffering from neuroblastoma whose postchemotherapy anemia, leucopenia, and stomatitis were complicated by methemoglobinemia after using a formulary oral gel (7.5% benzocaine, doxycycline, nystatin, glycerin). The complication resulted in hospital treatment. Percutaneous oxygen saturation remained at 85% and 87% despite administration of 100% oxygen through a nonrebreather mask. Arterial blood gas analysis showed an oxygen saturation of 98% and 97%, respectively. Spectroscopic measurement showed methemoglobin concentration of 42% and 35.5%, respectively. After red blood cell transfusion and oral ascorbic acid in case 1 and methylene blue in case 2, the patients' condition improved. Although the benzocaine gel is not in use in several medical systems, it should be considered as a possible reason for methemoglobinemia.
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http://dx.doi.org/10.1097/MPH.0b013e3182172532DOI Listing
March 2012

Glomerular filtration rate and prevalence of chronic kidney disease in Wilms' tumour survivors.

Pediatr Nephrol 2011 May 29;26(5):759-66. Epub 2011 Jan 29.

Department of Paediatrics, Medical University of Gdansk, Gdansk, Poland.

Glomerular filtration rate (GFR) was evaluated in 32 Wilms' tumour survivors (WTs) in a cross-sectional study using 99 Tc-diethylene triamine pentaacetic acid (99 Tc-DTPA) clearance, the Schwartz formula, the new Schwartz equation for chronic kidney disease (CKD), cystatin C serum concentration and the Filler formula. Kidney damage was established by beta-2-microglobulin (B-2-M) and albumin urine excretion, urine sediment and ultrasound examination. Blood pressure was measured. No differences were found between the mean GFR in 99 Tc-DTPA and the new Schwartz equation for CKD (91.8 ± 11.3 vs. 94.3 ± 10.2 ml/min/1.73 m(2) [p = 0.55] respectively). No differences were observed between estimated glomerular filtration rate (eGFR) using the Schwartz formula and the Filler formula either (122.3 ± 19.9 vs. 129.8 ± 23.9 ml/min/1.73 m(2) [p = 0.28] respectively). Increased urine albumin and B-2-M excretion, which are signs of kidney damage, were found in 7 (22%) and 3 (9.4%) WTs respectively. Ultrasound signs of kidney damage were found in 14 patients (43%). Five patients (15.6%) had more than one sign of kidney damage. Eighteen individuals (56.25%) had CKD stage I (10 with signs of kidney damage; 8 without). Fourteen individuals (43.75%) had CKD stage II (6 with signs of kidney damage; 8 without). The new Schwartz equation for CKD better estimated GFR in comparison to the Schwartz formula and the Filler formula. Furthermore, the WT survivors had signs of kidney damage despite the fact that GFR was not decreased below 90 ml/min/1.73 m(2) with 99 Tc- DTPA.
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http://dx.doi.org/10.1007/s00467-011-1759-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062777PMC
May 2011

Childhood rhabdomyosarcoma metastatic to bone marrow presenting with disseminated intravascular coagulation and acute tumour lysis syndrome: review of the literature apropos of two cases.

Clin Exp Metastasis 2010 Aug 2;27(6):399-407. Epub 2010 Jun 2.

Department of Paediatrics, Haematology, Oncology and Endocrinology, Medical University of Gdansk, 80-211 Gdansk, Poland.

The paper presents diagnostic and therapeutic difficulties in two adolescents with widespread rhabdomyosarcoma (RMS) presenting with severe haemorrhages resulting from disseminated intravascular coagulation (DIC) and with laboratory features of acute tumour lysis syndrome (ATLS). Other published cases of childhood RMS with DIC at admission have been listed and reviewed. It has been concluded that the clinical picture of a widespread RMS in children may resemble acute hematologic malignancy and pose a big diagnostic problem. That is why the presence of small blue round cells morphologically similar to lymphoblasts and/or myeloblasts in bone marrow (BM), lacking hematopoietic makers, should prompt the pathologist to consider possible diagnosis of RMS. Inclusion of desmin, MyoD1 and myogenin Myf4 to the immunohistochemical panel is obligatory in such cases. When the representative histopathological tumour specimens are difficult to obtain, the flow cytometric immunophenotyping of BM metastases could help the standard morphological/immunohistological diagnostic procedures and advance the diagnosis. Recently, the flow cytometric CD45- CD56+ immunophenotype together with Myf4 transcript has been assigned to RMS cells infiltrating BM. In children with disseminated RMS complicated with DIC rapid polychemotherapy aimed at diminishing the malignancy-triggered procoagulant activity should be initiated. However, in cases with concomitant ATLS the initial doses of chemotherapy should be reduced and the metabolic disorders and renal function monitored. The prognosis in children with RMS metastatic to BM with signs of DIC or ATLS at admission depends on the response to chemotherapy, however generally it is highly disappointing.
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http://dx.doi.org/10.1007/s10585-010-9335-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2910884PMC
August 2010