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  • 1.
    Albertsen, Birgitte Klug
    et al.
    Aarhus Univ Hosp, Children & Adolescent Hlth, Palle Juul Jensens Blvd 99, DK-8200 Aarhus N, Denmark.
    Harila-Saari, Arja
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Jahnukainen, Kirsi
    Univ Helsinki, Childrens Hosp, Helsinki, Finland;Univ Helsinki, Cent Hosp, Helsinki, Finland.
    Lahteenmaki, Paivi
    Turku Univ Hosp, Dept Pediat & Adolescent Med, Turku, Finland;Turku Univ, Turku, Finland.
    Riikonen, Pekka
    Kuopio Univ Hosp, Dept Pediat, Kuopio, Finland.
    Mottonen, Merja
    Univ Oulu, PEDEGO Res Ctr, Oulu, Finland;Univ Oulu, Med Res Ctr Oulu, Oulu, Finland;Oulu Univ Hosp, Dept Children & Adolescents, Oulu, Finland.
    Lausen, Birgitte
    Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark.
    Asparaginase treatment in infants with acute lymphoblastic leukemia; pharmacokinetics and asparaginase hypersensitivity in Interfant-062019Ingår i: Leukemia and Lymphoma, ISSN 1042-8194, E-ISSN 1029-2403, Vol. 60, nr 6, s. 1469-1475Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Acute lymphoblastic leukemia (ALL) is a rare disease in infants. Asparaginase is an essential part of the treatment, and there Acute is a need to evaluate the efficiency and safety of this drug in this age group. We evaluated the pharmacokinetics of intramuscularly administered native E. coli asparaginase (Asparaginase Medac((R))) and PEG-asparaginase (Oncaspar((R))) as well as hypersensitivity reactions during treatment in Interfant-06 (www.clinicaltrials.gov: NCT01025804). All patients without hypersensitivity had sufficiently high enzyme activity levels during treatment with both preparations. Patients with hypersensitivity reactions during treatment, characterized by the presence of either or not of clinical symptoms and no measurable enzyme activity, received ineffective therapy. For optimization of the bad prognosis in infant ALL, therapeutic drug monitoring should be performed for identification of patients who should be switched to a different asparaginase preparation because of inactivation of the drug.

  • 2.
    Anastasopoulou, Stavroula
    et al.
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden;Karolinska Univ Hosp, Stockholm, Sweden.
    Eriksson, Mats A.
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden;Karolinska Univ Hosp, Stockholm, Sweden.
    Heyman, Mats
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden;Karolinska Univ Hosp, Stockholm, Sweden.
    Wang, Chen
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden;Karolinska Univ Hosp, Stockholm, Sweden.
    Niinimäki, Riitta
    Oulu Univ Hosp, Dept Children & Adolescents, Oulu, Finland;Univ Oulu, PEDEGO Res Unit, Oulu, Finland.
    Mikkel, Sirje
    Univ Tartu, Dept Hematol & Oncol, Tartu, Estonia.
    Vaitkeviciene, Goda E.
    Vilnius Univ Hosp Santaros Klin, Childrens Hosp, Vilnius, Lithuania;Vilnius Univ, Vilnius, Lithuania.
    Johannsdottir, Inga Maria
    Oslo Univ Hosp, Dept Pediat Hematol Oncol, Oslo, Norway.
    Myrberg, Ida Hed
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.
    Jonsson, Olafur Gisli
    Univ Iceland, Dept Pediat, Reykjavik, Iceland.
    Als-Nielsen, Bodil
    Rigshosp, Univ Hosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark;Univ Copenhagen, Fac Med, Inst Clin Med, Copenhagen, Denmark.
    Schmiegelow, Kjeld
    Rigshosp, Univ Hosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark;Univ Copenhagen, Fac Med, Inst Clin Med, Copenhagen, Denmark.
    Banerjee, Joanna
    Univ Helsinki, Childrens Hosp, Dept Pediat Hematol Oncol & Stem Cell Transplanta, Helsinki, Finland;Helsinki Univ Hosp, Helsinki, Finland.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Ranta, Susanna
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden;Karolinska Univ Hosp, Stockholm, Sweden.
    Posterior reversible encephalopathy syndrome in children with acute lymphoblastic leukemia: Clinical characteristics, risk factors, course, and outcome of disease2019Ingår i: Pediatric Blood & Cancer, ISSN 1545-5009, E-ISSN 1545-5017, Vol. 66, nr 5, artikel-id e27594Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Posterior reversible encephalopathy syndrome (PRES) is a distinct entity with incompletely known predisposing factors. The aim of this study is to describe the incidence, risk factors, clinical course, and outcome of PRES in childhood acute lymphoblastic leukemia (ALL).

    Procedure: Patients aged 1.0 to 17.9 years diagnosed with ALL from July 2008 to December 2015 and treated according to the Nordic Society of Pediatric Hematology and Oncology (NOPHO) ALL2008 protocol were included. Patients with PRES were identified in the prospective NOPHO leukemia toxicity registry, and clinical data were collected from the medical records.

    Results: The study group included 1378 patients, of whom 52 met the criteria for PRES. The cumulative incidence of PRES at one month was 1.7% (95% CI, 1.1-2.5) and at one year 3.7% (95% CI, 2.9-4.9). Older age (hazard ratios [HR] for each one-year increase in age 1.1; 95% CI, 1.0-1.2, P = 0.001) and T-cell immunophenotype (HR, 2.9; 95% CI, 1.6-5.3, P = 0.0005) were associated with PRES. Central nervous system (CNS) involvement (odds ratios [OR] = 2.8; 95% CI, 1.2-6.5, P = 0.015) was associated with early PRES and high-risk block treatment (HR = 2.63; 95% CI, 1.1-6.4, P = 0.033) with late PRES. At follow-up of the PRES patients, seven patients had epilepsy and seven had neurocognitive difficulties.

    Conclusion: PRES is a neurotoxicity in the treatment of childhood ALL with both acute and long-term morbidity. Older age, T-cell leukemia, CNS involvement and high-risk block treatment are risk factors for PRES.

  • 3.
    Byrne, Julianne
    et al.
    Boyne Res Inst, 5 Bolton Sq East, Drogheda A92 RY6K, Louth, Ireland..
    Alessi, Daniela
    Univ Turin, Citta Salute & Sci Hosp, Canc Epidemiol Unit, Childhood Canc Registry Piedmont, Via Santena 7, I-10126 Turin, Italy.;Ctr Canc Prevent CPO, Via Santena 7, I-10126 Turin, Italy..
    Allodji, Rodrigue S.
    Univ Paris Saclay, Gustave Roussy, Canc & Radiat, Unit INSERM 1018, 39 Rue Camille Desmoulins, F-94805 Villejuif, France..
    Bagnasco, Francesca
    Ist Giannina Gaslini, Epidemiol & Biostat Unit, Italian Off Therapy Registry OTR, Via Gerolamo Gaslini 5, I-16148 Genoa, Italy..
    Bardi, Edit
    Semmelweis Univ, Dept Pediat 2, Budapest, Hungary.;Kepler Univ Klinikum, Linz, Austria..
    Bautz, Andrea
    Danish Canc Soc, Res Ctr, Strandboulevarden 49, DK-2100 Copenhagen, Denmark..
    Bright, Chloe J.
    Univ Birmingham, Inst Appl Hlth Res, Ctr Childhood Canc Survivor Studies, Birmingham B15 2TT, W Midlands, England..
    Brown, Morven
    Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE4 5PL, Tyne & Wear, England..
    Diallo, Ibrahima
    Univ Paris Saclay, Gustave Roussy, Canc & Radiat, Unit INSERM 1018, 39 Rue Camille Desmoulins, F-94805 Villejuif, France..
    Feijen, Elizabeth A. M. (Lieke)
    Acad Med Ctr Amsterdam, Emma Childrens Hosp, Dept Pediat Oncol, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.;Princess Maxima Ctr Paediat Oncol, Utrecht, Netherlands..
    Fidler, Miranda M.
    WHO, Sect Canc Surveillance, Int Agcy Res Canc, F-69372 Lyon 08, France..
    Frey, Eva
    St Anna Childrens Hosp, Kinderspitalgasse 6, A-1090 Vienna, Austria..
    Garwicz, Stanislaw
    Lund Univ, Dept Clin Sci, Pediat, Skane Univ Hosp, Lund, Sweden..
    Grabow, Desiree
    Univ Med Ctr, Inst Med Biostat Epidemiol & Informat, GCCR, Mainz, Germany..
    Gudmundsdottir, Thorgerdur
    Danish Canc Soc, Res Ctr, Strandboulevarden 49, DK-2100 Copenhagen, Denmark..
    Hagberg, Oskar
    Reg Canc Ctr South, Lund, Sweden..
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Hau, Eva M.
    Univ Bern, Inst Social & Prevent Med, Swiss Childhood Canc Registry, Bern, Switzerland.;Univ Bern, Univ Childrens Hosp Bern, Dept Paediat, Bern, Switzerland..
    Haupt, Riccardo
    Ist Giannina Gaslini, Epidemiol & Biostat Unit, Italian Off Therapy Registry OTR, Via Gerolamo Gaslini 5, I-16148 Genoa, Italy..
    Hawkins, Mike M.
    Univ Birmingham, Inst Appl Hlth Res, Ctr Childhood Canc Survivor Studies, Birmingham B15 2TT, W Midlands, England..
    Jakab, Zsuzsanna
    Semmelweis Univ, Dept Pediat 2, Hungarian Childhood Canc Registry, Budapest, Hungary..
    Jankovic, Momcilo
    Univ Milano Bicocca, Fdn MBBM Monza, Pediat Clin, Monza, Italy.;Italian Off Therapy Register OTR, Monza, Italy..
    Kaatsch, Peter
    Univ Med Ctr, Inst Med Biostat Epidemiol & Informat, GCCR, Mainz, Germany..
    Kaiser, Melanie
    Univ Med Ctr, Inst Med Biostat Epidemiol & Informat, GCCR, Mainz, Germany..
    Kremer, Leontien C. M.
    Acad Med Ctr Amsterdam, Emma Childrens Hosp, Dept Pediat Oncol, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.;Princess Maxima Ctr Paediat Oncol, Utrecht, Netherlands..
    Kuehni, Claudia E.
    Univ Bern, Inst Social & Prevent Med, Swiss Childhood Canc Registry, Bern, Switzerland.;Univ Bern, Univ Childrens Hosp Bern, Dept Paediat, Bern, Switzerland..
    Kuonen, Rahel
    Univ Bern, Inst Social & Prevent Med, Swiss Childhood Canc Registry, Bern, Switzerland..
    Ladenstein, Ruth
    Med Univ, St Anna Childrens Canc Res Inst, Dept Paediat, Vienna, Austria..
    Lahteenmaki, Paivi Maria
    Turku Univ, Dept Pediat & Adolescent Med, Turku, Finland.;Turku Univ Hosp, Turku, Finland..
    Levitt, Gill
    Great Ormond St Hosp Children NHS Fdn Trust, Dept Oncol, London WCIN3JH, England..
    Linge, Helena
    Lund Univ, Dept Clin Sci, Pediat, Skane Univ Hosp, Lund, Sweden..
    LLanas, Damien
    Univ Paris Saclay, Gustave Roussy, Canc & Radiat, Unit INSERM 1018, 39 Rue Camille Desmoulins, F-94805 Villejuif, France..
    Michel, Gisela
    Univ Lucerne, Dept Hlth Sci & Hlth Policy, Luzern, Switzerland..
    Morsellino, Vera
    Ist Giannina Gaslini, Epidemiol & Biostat Unit, Italian Off Therapy Registry OTR, Via Gerolamo Gaslini 5, I-16148 Genoa, Italy..
    Mulder, Renee L.
    Acad Med Ctr Amsterdam, Emma Childrens Hosp, Dept Pediat Oncol, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.;Princess Maxima Ctr Paediat Oncol, Utrecht, Netherlands..
    Reulen, Raoul C.
    Univ Birmingham, Inst Appl Hlth Res, Ctr Childhood Canc Survivor Studies, Birmingham B15 2TT, W Midlands, England..
    Ronckers, Cecile M.
    Acad Med Ctr Amsterdam, Emma Childrens Hosp, Dept Pediat Oncol, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.;Princess Maxima Ctr Paediat Oncol, Utrecht, Netherlands..
    Sacerdote, Carlotta
    Univ Turin, Citta Salute & Sci Hosp, Canc Epidemiol Unit, Childhood Canc Registry Piedmont, Via Santena 7, I-10126 Turin, Italy.;Ctr Canc Prevent CPO, Via Santena 7, I-10126 Turin, Italy..
    Skinner, Roderick
    Royal Victoria Infirm, Great North Childrens Hosp, Dept Paediat & Adolescent Haematol & Oncol, Childrens BMT Unit, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.;Newcastle Univ, Northern Inst Canc Res, Newcastle Upon Tyne NE4 5PL, Tyne & Wear, England..
    Steliarova-Foucher, Eva
    WHO, Sect Canc Surveillance, Int Agcy Res Canc, F-69372 Lyon 08, France..
    van der Pal, Helena J.
    Princess Maxima Ctr Paediat Oncol, Utrecht, Netherlands..
    de Vathaire, Florent
    Univ Paris Saclay, Gustave Roussy, Canc & Radiat, Unit INSERM 1018, 39 Rue Camille Desmoulins, F-94805 Villejuif, France..
    Bezin, Giao Vu
    Univ Paris Saclay, Gustave Roussy, Canc & Radiat, Unit INSERM 1018, 39 Rue Camille Desmoulins, F-94805 Villejuif, France..
    Wesenberg, Finn
    Norwegian Canc Register, Oslo, Norway.;Oslo Univ Hosp, Dept Pediat Med, Oslo, Norway.;Univ Oslo, Fac Med, Inst Clin Med, Oslo, Norway..
    Wiebe, Thomas
    Lund Univ, Dept Clin Sci, Pediat, Skane Univ Hosp, Lund, Sweden..
    Winter, David L.
    Univ Birmingham, Inst Appl Hlth Res, Ctr Childhood Canc Survivor Studies, Birmingham B15 2TT, W Midlands, England..
    Winther, Jeanette Falck
    Danish Canc Soc, Res Ctr, Strandboulevarden 49, DK-2100 Copenhagen, Denmark.;Aarhus Univ, Fac Hlth, Dept Clin Med, Palle Juul Jensens Blvd 82, DK-8200 Aarhus, Denmark..
    Witthoff, Elise
    Lund Univ, Dept Clin Sci, Pediat, Skane Univ Hosp, Lund, Sweden..
    Zaletel, Lorna Zadravec
    Inst Oncol, Div Radiotherapy, Zaloska Cesta 2, SI-1000 Ljubljana, Slovenia..
    Hjorth, Lars
    Lund Univ, Dept Clin Sci, Pediat, Skane Univ Hosp, Lund, Sweden..
    The PanCareSurFup consortium: research and guidelines to improve lives for survivors of childhood cancer2018Ingår i: European Journal of Cancer, ISSN 0959-8049, E-ISSN 1879-0852, Vol. 103, nr Nov, s. 238-248Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Second malignant neoplasms and cardiotoxicity are among the most serious and frequent adverse health outcomes experienced by childhood and adolescent cancer survivors (CCSs) and contribute significantly to their increased risk of premature mortality. Owing to differences in health-care systems, language and culture across the continent, Europe has had limited success in establishing multi-country collaborations needed to assemble the numbers of survivors required to clarify the health issues arising after successful cancer treatment. PanCareSurFup (PCSF) is the first pan-European project to evaluate some of the serious long-term health risks faced by survivors. This article sets out the overall rationale, methods and preliminary results of PCSF. Methods: The PCSF consortium pooled data from 13 cancer registries and hospitals in 12 European countries to evaluate subsequent primary malignancies, cardiac disease and late mortality in survivors diagnosed between ages 0 and 20 years. In addition, PCSF integrated radiation dosimetry to sites of second malignancies and to the heart, developed evidence-based guidelines for long-term care and for transition services, and disseminated results to survivors and the public. Results: We identified 115,596 individuals diagnosed with cancer, of whom 83,333 were 5-year survivors and diagnosed from 1940 to 2011. This single data set forms the basis for cohort analyses of subsequent malignancies, cardiac disease and late mortality and case-control studies of subsequent malignancies and cardiac disease in 5-year survivors. Conclusions: PCSF delivered specific estimates of risk and comprehensive guidelines to help survivors and care-givers. The expected benefit is to provide every European CCS with improved access to care and better long-term health.

  • 4.
    Einberg, Afrodite Psaros
    et al.
    Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC, Stockholm, Sweden;Karolinska Univ Hosp, Dept Pediat, S-14186 Stockholm, Sweden.
    Ekman, Anna-Theresia
    Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC, Stockholm, Sweden.
    Söderhäll, Stefan
    Karolinska Univ Hosp, Dept Pediat, S-14186 Stockholm, Sweden;Karolinska Inst, Dept Womens & Childrens Hlth KBH, Stockholm, Sweden.
    Millbourn, Charlotta
    Huddinge Karolinska Inst, Dept Med, Stockholm, Sweden;Karolinska Univ Hosp, Dept Infect Dis, Stockholm, Sweden.
    Lindahl, Karin
    Huddinge Karolinska Inst, Dept Med, Stockholm, Sweden;Karolinska Univ Hosp, Dept Infect Dis, Stockholm, Sweden.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Fischler, Björn
    Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC, Stockholm, Sweden;Karolinska Univ Hosp, Dept Pediat, S-14186 Stockholm, Sweden.
    Prevalence of chronic hepatitis C virus infection among childhood cancer survivors in Stockholm, Sweden2019Ingår i: Acta Oncologica, ISSN 0284-186X, E-ISSN 1651-226X, Vol. 58, nr 7, s. 997-1002Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Childhood cancer survivors treated before 1992, when blood donor screening for hepatitis C virus (HCV) infection was introduced, are at risk of transfusion-transmitted HCV infection. A national HCV screening campaign targeting blood transfusion recipients was launched in Sweden in 2007-2010. The aims of this study were to, among adult childhood cancer survivors in Stockholm County, investigate the prevalence of HCV infection, the natural course of infection, treatment outcome and anti-HCV testing frequency before, during and after the screening campaign and finally to actively screen the untested ones.

    Material and Methods: This was a combined retrospective register based and prospective screening study of adult childhood cancer survivors (n=686) treated for malignancy in Stockholm before 1992. In the first part, we investigated the prevalence of HCV infection and previous anti-HCV testing, and in the second part, we actively traced and HCV-screened the remaining untested cohort living in Stockholm. Analysis of previous documented anti-HCV tests in medical records, laboratory records, and the national communicable disease registry was performed. In the second part, 231 presumably untested individuals were contacted by mail and offered an anti-HCV test. The natural course of HCV infection and treatment outcome was analyzed for those found to be chronically infected.

    Results: In total, 235 patients were tested and 11 were HCV-RNA positive. The overall prevalence of chronic HCV infection among the tested childhood cancer survivors was thus 4.7% (95% CI = 2.6-8.2%), which is almost 10 times higher than the national prevalence of 0.5%. Only 12% of the Stockholm cohort were tested during the screening campaign in 2007-2010, while the test uptake using active tracing screening within this study was 40% (p<.001).

    Conclusion: With today's effective treatment options, active tracing and HCV screening of childhood cancer survivors are recommended.

  • 5.
    Højfeldt, Sofie G.
    et al.
    Aarhus Univ Hosp, Child & Adolescent Hlth, Aarhus, Denmark.
    Wolthers, Benjamin O
    Univ Hosp Rigshosp, Dept Paediat & Adolescent Med, Copenhagen, Denmark.
    Tulstrup, Morten
    Univ Hosp Rigshosp, Dept Paediat & Adolescent Med, Copenhagen, Denmark.
    Abrahamsson, Jonas
    Univ Gothenburg, Sahlgrenska Acad, Inst Clin Sci, Dept Paediat, Gothenburg, Sweden.
    Gupta, Ramneek
    Tech Univ Denmark, Dept Bio & Hlth Informat, Lyngby, Denmark.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Heyman, Mats
    Karolinska Univ Hosp, Childhood Canc Res Unit, Dept Womens & Childrens Hlth, Stockholm, Sweden; Karolinska Inst, Stockholm, Sweden.
    Henriksen, Louise T.
    Aarhus Univ Hosp, Child & Adolescent Hlth, Aarhus, Denmark.
    Jónsson, Òlafur G.
    Landspitali Univ Hosp, Childrens Hosp, Reykjavik, Iceland.
    Lähteenmäki, Päivi M
    Turku Univ Hosp, Dept Paediat & Adolescent Med, Turku, Finland; Turku Univ, Turku, Finland.
    Lund, Bendik
    St Olavs Hosp, Dept Paediat, Trondheim, Norway.
    Pruunsild, Kaie
    Univ Childrens Hosp, Dept Oncol & Haematol, Tallinn, Estonia.
    Vaitkeviciene, Goda
    Vilnius Univ, Fac Med, Clin Childrens Dis, Vilnius, Lithuania.
    Schmiegelow, Kjeld
    Univ Hosp Rigshosp, Dept Paediat & Adolescent Med, Copenhagen, Denmark.
    Albertsen, Birgitte K
    Aarhus Univ Hosp, Child & Adolescent Hlth, Aarhus, Denmark.
    Genetic predisposition to PEG-asparaginase hypersensitivity in children treated according to NOPHO ALL20082019Ingår i: British Journal of Haematology, ISSN 0007-1048, E-ISSN 1365-2141, Vol. 184, nr 3, s. 405-417Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Asparaginase is essential in childhood acute lymphoblastic leukaemia (ALL) treatment, however hypersensitivity reactions to pegylated asparaginase (PEG-asparaginase) hampers anti-neoplastic efficacy. Patients with PEG-asparaginase hypersensitivity have been shown to possess zero asparaginase enzyme activity. Using this measurement to define the phenotype, we investigated genetic predisposition to PEG-asparaginase hypersensitivity in a genome-wide association study (GWAS). From July 2008 to March 2016, 1494 children were treated on the Nordic Society of Paediatric Haematology and Oncology ALL2008 protocol. Cases were defined by clinical hypersensitivity and no enzyme activity, controls had enzyme activity ≥ 100 iu/l and no hypersensitivity symptoms. PEG-asparaginase hypersensitivity was reported in 13·8% (206/1494) of patients. Fifty-nine cases and 772 controls fulfilled GWAS inclusion criteria. The CNOT3 variant rs73062673 on 19q13.42, was associated with PEG-asparaginase allergy (P = 4·68 × 10-8 ). We further identified two signals on chromosome 6 in relation to HLA-DQA1 (P = 9·37 × 10-6 ) and TAP2 (P = 1·59 × 10-5 ). This study associated variants in CNOT3 and in the human leucocyte antigen (HLA) region with PEG-asparaginase hypersensitivity, suggesting that not only genetic variations in the HLA region, but also regulation of these genes are of importance in the biology of this toxicity. Furthermore, our study emphasizes the importance of using asparaginase enzyme activity measurements to identify PEG-asparaginase hypersensitivity.

  • 6.
    Jackmann, Natalja
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Mäkitie, Outi
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Pediatrisk inflammationsforskning.
    Dernroth, Dzeneta Nezirevich
    Dept Clin Chem & Expt Med, Linkoping, Sweden.
    Frisk, Per
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Vitamin D Status in Children with Leukemia2018Ingår i: Blood, ISSN 0006-4971, E-ISSN 1528-0020, Vol. 132Artikel i tidskrift (Övrigt vetenskapligt)
  • 7.
    Jarviaho, Tekla
    et al.
    Univ Oulu, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Med Res Ctr, Oulu, Finland;Oulu Univ Hosp, Oulu, Finland;Univ Oulu, Bioctr Oulu, Oulu, Finland.
    Bang, Benedicte
    Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden.
    Zachariadis, Vasilios
    Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
    Taylan, Fulya
    Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden.
    Moilanen, Jukka
    Univ Oulu, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Med Res Ctr, Oulu, Finland;Oulu Univ Hosp, Oulu, Finland;Oulu Univ Hosp, Dept Clin Genet, Oulu, Finland.
    Mottonen, Merja
    Univ Oulu, PEDEGO Res Unit, Oulu, Finland;Oulu Univ Hosp, Dept Children & Adolescents, Oulu, Finland.
    Smith, C. I. Edvard
    Karolinska Inst, Clin Res Ctr, Dept Lab Med, Huddinge, Sweden.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Niinimaki, Riitta
    Univ Oulu, PEDEGO Res Unit, Oulu, Finland;Oulu Univ Hosp, Dept Children & Adolescents, Oulu, Finland.
    Nordgren, Ann
    Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
    Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV62019Ingår i: BLOOD ADVANCES, ISSN 2473-9529, Vol. 3, nr 18, s. 2722-2731Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Pathogenic germline variants in ETV6 have been associated with familial predisposition to thrombocytopenia and hematological malignancies, predominantly childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In addition, overrepresentation of a high hyperdiploid subtype and older age at diagnosis have been reported among sporadic BCP-ALL cases with germline variants in ETV6. We studied a family with 2 second-degree relatives who developed childhood high hyperdiploid BCP-ALL at ages 8 and 12 years, respectively. A constitutional balanced reciprocal translocation t(12;14)(p13.2;q23.1) was discovered in both patients by routine karyotyping at diagnosis and, subsequently, in 7 healthy family members who had not experienced hematological malignancies. No carriers had thrombocytopenia. Whole-genome sequencing confirmed the translocation, resulting in 2 actively transcribed but nonfunctional fusion genes, causing heterozygous loss and consequently monoallelic expression of ETV6. Whole-genome sequencing analysis of the affected female subjects' leukemia excluded additional somatic aberrations in ETV6 and RTN1 as well as shared somatic variants in other genes. Expression studies, performed to confirm decreased expression of ETV6, were not conclusive. We suggest that germline aberrations resulting in monoallelic expression of ETV6 contribute to leukemia susceptibility, whereas more severe functional deficiency of ETV6 is required for developing THC5. To our knowledge, this report is the first of a constitutional translocation disrupting ETV6 causing predisposition to childhood ALL.

  • 8.
    Jussila, Miro-Pekka
    et al.
    Univ Oulu, Res Unit Med Imaging Phys & Technol, Fac Med, Oulu, Finland;Univ Oulu, Med Res Ctr, Oulu, Finland.
    Remes, Tiina
    Oulu Univ Hosp, Dept Pediat & Adolescence, Oulu, Finland;Oulu Univ Hosp, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Anttonen, Julia
    Oulu Univ Hosp, Dept Pediat & Adolescence, Oulu, Finland;Oulu Univ Hosp, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Niinimaki, Jaakko
    Univ Oulu, Res Unit Med Imaging Phys & Technol, Fac Med, Oulu, Finland;Univ Oulu, Med Res Ctr, Oulu, Finland;Univ Oulu, Oulu, Finland;Oulu Univ Hosp, Dept Diagnost Radiol, Oulu, Finland.
    Pokka, Tytti
    Oulu Univ Hosp, Dept Pediat & Adolescence, Oulu, Finland;Oulu Univ Hosp, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Koskenkorva, Paivi
    Kuopio Univ Hosp, Dept Clin Radiol, Kuopio, Finland.
    Sutela, Anna
    Kuopio Univ Hosp, Dept Clin Radiol, Kuopio, Finland.
    Toiviainen-Sale, Sanna
    Univ Helsinki, Dept Pediat Radiol, HUS Med Imaging Ctr, Radiol, Helsinki, Finland;Helsinki Univ Hosp, Helsinki, Finland.
    Arikoski, Pekka
    Kuopio Univ Hosp, Dept Pediat & Adolescence, Kuopio, Finland;Univ Eastern Finland, Kuopio, Finland.
    Riikonen, Pekka
    Kuopio Univ Hosp, Dept Pediat & Adolescence, Kuopio, Finland;Univ Eastern Finland, Kuopio, Finland.
    Arola, Mikko
    Tampere Univ Hosp, Dept Pediat, Tampere, Finland;Univ Tampere, Fac Med & Life Sci, Tampere, Finland.
    Lahteenmaki, Paivi
    Turku Univ Hosp, Dept Pediat & Adolescent Med, Turku, Finland;Turku Univ, Turku, Finland.
    Sirkia, Kirsti
    Helsinki Univ Hosp, Dept Pediat & Adolescence, Helsinki, Finland.
    Rantala, Heikki
    Oulu Univ Hosp, Dept Pediat & Adolescence, Oulu, Finland;Oulu Univ Hosp, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Suo-Palosaari, Maria
    Univ Oulu, Res Unit Med Imaging Phys & Technol, Fac Med, Oulu, Finland;Univ Oulu, Med Res Ctr, Oulu, Finland;Univ Oulu, Oulu, Finland;Oulu Univ Hosp, Dept Diagnost Radiol, Oulu, Finland.
    Ojaniemi, Marja
    Univ Oulu, Med Res Ctr, Oulu, Finland;Oulu Univ Hosp, Dept Pediat & Adolescence, Oulu, Finland;Oulu Univ Hosp, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Late vertebral side effects in long-term survivors of irradiated childhood brain tumor2018Ingår i: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 13, nr 12, artikel-id e0209193Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Purpose: Long-term side effects of the treatments are common in survivors of irradiated pediatric brain tumors. Ionizing radiation in combination with surgery and chemotherapy during childhood may reduce vertebral height and bone mineral density (BMD), and cause growth failure. The aim of this study was to evaluate the late consequences of tumor treatments on vertebrae in survivors of childhood brain tumors.

    Methods: 72 adult survivors (mean age 27.8 years, standard deviation 6.7) of irradiated childhood brain tumor were studied by spinal magnetic resonance imaging (MRI) for vertebral abnormalities from the national cohort of Finland. Patients were treated in five university hospitals in Finland between the years 1970 and 2008. Subject height and weight were measured and body mass index (BMI) was calculated. The morphology and height/ depth ratio of the vertebrae in the middle of the kyphotic thoracic curvature (Th8) and lumbar lordosis (L3) were examined. Vertebrae were analyzed by Genant's semiquantative (SQ) method and spinal deformity index (SDI) was calculated. BMD was measured by using dual X-ray absorptiometry.

    Results: 4.2% (3/72) of the patients had undiagnosed asymptomatic vertebral fracture and 5.6% (4/72) of patients had radiation- induced decreased vertebral body height. Male patients had flatter vertebrae compared with females. Patient age at the time of irradiation, BMI and irradiation area correlated to vertebral morphology differentially in males and females. BMD had no association with the vertebral shape. Patients who had received craniospinal irradiation were shorter than the general population.

    Conclusion: Childhood brain tumor survivors had a high number of vertebral abnormalities in young adulthood. Irradiation was associated with abnormal vertebral morphology and compromised final height. Male gender may predispose vertebrae to the side effects of irradiation.

  • 9. Järviaho, Tekla
    et al.
    Zachariadis, Vasilios
    Tesi, Bianca
    Chiang, Samuel
    Bryceson, Yenan T.
    Möttönen, Merja
    Niinimäki, Riitta
    Bang, Benedicte
    Rahikkala, Elisa
    Taylan, Fulya
    Uusimaa, Johanna
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Nordgren, Ann
    Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia2019Ingår i: British Journal of Haematology, ISSN 0007-1048, E-ISSN 1365-2141, Vol. 185, nr 2, s. 354-357Artikel i tidskrift (Övrigt vetenskapligt)
  • 10.
    Lumme, Johanna
    et al.
    Oulu Univ Hosp, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Mottonen, Merja
    Oulu Univ Hosp, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Pokka, Tytti
    Oulu Univ Hosp, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Makitie, Outi
    Univ Helsinki, Helsinki, Finland;Helsinki Univ Hosp, Helsinki, Finland;Karolinska Inst, Stockholm, Sweden;Karolinska Univ Hosp, Stockholm, Sweden.
    Harila-Saari, Arja
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Niinimaki, Riitta
    Oulu Univ Hosp, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Vitamin D Status in Children With Hemato-Oncological Diseases in Northern Finland2019Ingår i: Clinical Pediatrics, ISSN 0009-9228, E-ISSN 1938-2707, Vol. 58, nr 2, s. 241-244Artikel i tidskrift (Refereegranskat)
  • 11.
    Lövgren, Malin
    et al.
    Ersta Sköndal Bräcke Univ Coll, Palliat Res Ctr, Dept Hlth Care Sci, Stockholm, Sweden; Karolinska Inst, Childhood Canc Res Unit, Dept Womens & Childrens Hlth, Paediat Oncol & Haematol, Stockholm, Sweden.
    Mogensen, Nina
    Karolinska Inst, Childhood Canc Res Unit, Dept Womens & Childrens Hlth, Paediat Oncol & Haematol, Stockholm, Sweden.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Lähteenmäki, Päivi Maria
    Turku Univ, Turku Univ Hosp, Dept Paediat & Adolescent Med, Turku, Finland.
    Kreicbergs, Ulrika
    Ersta Sköndal Bräcke Univ Coll, Palliat Res Ctr, Dept Hlth Care Sci, Stockholm, Sweden; Karolinska Inst, Childhood Canc Res Unit, Dept Womens & Childrens Hlth, Paediat Oncol & Haematol, Stockholm, Sweden.
    Sweden and Finland need to improve the support provided for the siblings of children with cancer2019Ingår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, nr 2, s. 369-370Artikel i tidskrift (Övrigt vetenskapligt)
  • 12.
    Niinimäki, Riitta
    et al.
    Oulu Univ Hosp, Dept Children & Adolescents, Box 23, FI-90029 Oulu, Finland;Univ Oulu, PEDEGO Res Unit, Oulu, Finland.
    Suo-Palosaari, Maria
    Oulu Univ Hosp, Dept Diagnost Radiol, Oulu, Finland;Univ Oulu, Res Unit Med Imaging Phys & Technol, Oulu, Finland.
    Pokka, Tytti
    Oulu Univ Hosp, Dept Children & Adolescents, Box 23, FI-90029 Oulu, Finland;Univ Oulu, PEDEGO Res Unit, Oulu, Finland.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Niinimäki, Tuukka
    Oulu Univ Hosp, Dept Surg, Oulu, Finland.
    The radiological and clinical follow-up of osteonecrosis in cancer patients2019Ingår i: Acta Oncologica, ISSN 0284-186X, E-ISSN 1651-226X, Vol. 58, nr 4, s. 505-511Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: In patients with cancer, osteonecrosis (ON) lesions can affect multiple sites throughout the skeleton, including the long and short bones and the joints. The aims of this study were to explore the natural course of ON in patients treated for cancer by using radiological classification suitable for multisite ON lesions and to assess correlations between the ON grade and surgical procedures.

    Material and methods: Data were retrieved from hospital databases on 233 ON lesions in 54 patients (aged 2-73 years at cancer diagnosis; mean age: 25 years). ONs were graded according to the Niinimaki classification, based on magnetic resonance images. Medical records were reviewed to identify surgical procedures.

    Results: A total of 14 different ON sites were detected; the hip was the most common site (n = 51), followed by the femur (n = 45), tibia (n = 41) and knee (n = 37). Among the 233 ON lesions, 78.1% did not require surgical procedures. The remaining lesions required total joint arthroplasty (TJA; 40/233, 17.2%), core decompression (3.4%) and arthroscopy (1.3%). Most TJAs (33/40, 82.5%) were performed on the hip. ONs of the knee required TJAs only once; grade 3 knee ONs frequently healed (58%, 11/19). None of the diaphyseal or metaphyseal (grade 1-2) ONs of the long bones required surgery, and no fractures of those bones were identified.

    Conclusions: In conclusion, the natural history of ONs varied by the grade and site. Based on our findings, we would not recommend routine radiological follow-ups for grades 1-2 ON lesions that do not affect the joints, because the clinical consequences of those lesions appear to be minimal, although pain relief would be warranted. In contrast, joint deformations (grade 5) require surgery; therefore, intervention studies should focus on grades 3-4 ON lesions.

  • 13.
    Remes, Tiina M.
    et al.
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Arikoski, Pekka M.
    Kuopio Univ Hosp, Dept Pediat & Adolescence, Kuopio, Finland.
    Lahteenmaki, Paivi M.
    Turku Univ Hosp, Dept Pediat & Adolescence, Turku, Finland;Turku Univ, Turku, Finland.
    Arola, Mikko O.
    Tampere Univ Hosp, Dept Pediat & Adolescence, Tampere, Finland.
    Pokka, Tytti M. -L.
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Riikonen, V. Pekka
    Kuopio Univ Hosp, Dept Pediat & Adolescence, Kuopio, Finland.
    Sirkia, Kirsti H.
    Helsinki Univ Hosp, Dept Pediat & Adolescence, Helsinki, Finland.
    Rantala, Heikki M. J.
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Ojaniemi, Marja K.
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Oulu, Finland;Univ Oulu, Oulu, Finland.
    Bone mineral density is compromised in very long-term survivors of irradiated childhood brain tumor2018Ingår i: Acta Oncologica, ISSN 0284-186X, E-ISSN 1651-226X, Vol. 57, nr 5, s. 665-674Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Introduction: The increase in the number of childhood brain tumor survivors warrants detailed research to increase our knowledge regarding the possible physical and psychosocial adverse outcomes of tumor and tumor therapy. The aim of this study was to evaluate the current bone health by measuring the bone mineral density (BMD) in irradiated, adult long-term survivors of childhood brain tumors.Material and methods: We studied a national cohort of 74 adult survivors of childhood brain tumors treated with irradiation in Finland between 1970 and 2008. Dual X-ray absorptiometry (DXA) was performed for the femoral necks, total hips, and lumbar spine. Laboratory tests were conducted for evaluating the pituitary, thyroid, and gonadal functions. The participants were interviewed, examined clinically, and the disease and treatment related data were retrieved from the patient files.Results: One fourth of the patients (23.6%) had sex- and age-normalized z-scores below the expected range for age (z-score -2.0). Mean BMD scores were decreased in all the DXA measurement sites. Male sex was associated with low BMD (p<.05), while body mass index (BMI) had a significant positive association with BMD (p<.01). Mode of irradiation (with or without spinal irradiation) or inclusion of chemotherapy in the treatment did not affect BMD significantly. However, patients with a ventriculoperitoneal shunt had lower BMD than those without a shunt (p<.05). Follicle stimulating hormone (FSH) and luteinizing hormone (LH) were negatively associated with BMD in women (p<.05). However, a higher cumulative dose of glucocorticoids during treatment was not associated with lower BMD, while low BMD was significantly associated with previous fractures in long bones.Discussion: Low BMD should be taken in consideration in treatment of irradiated childhood brain tumor survivors especially in those with previous fractures in long bones.

  • 14.
    Remes, Tiina M.
    et al.
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Med Res Ctr, POB 28, Oulu 90029, Finland;Univ Oulu, POB 28, Oulu 90029, Finland.
    Suo-Palosaari, Maria H.
    Univ Oulu, POB 28, Oulu 90029, Finland;Oulu Univ Hosp, Dept Diagnost Radiol, Oulu, Finland;Univ Oulu, Fac Med, Res Unit Med Imaging Phys & Technol, Oulu, Finland;Oulu Univ Hosp, Med Res Ctr Oulu, Oulu, Finland.
    Heikkilä, Vesa-Pekka
    Oulu Univ Hosp, Dept Oncol & Radiotherapy, Oulu, Finland.
    Sutela, Anna K.
    Kuopio Univ Hosp, Dept Clin Radiol, Kuopio, Finland.
    Koskenkorva, Päivi K. T.
    Kuopio Univ Hosp, Dept Clin Radiol, Kuopio, Finland.
    Toiviainen-Salo, Sanna-Maria
    Univ Helsinki, HUS Med Imaging Ctr, Dept Pediat Radiol, Helsinki, Finland;Helsinki Univ Hosp, Helsinki, Finland.
    Porra, Liisa
    Helsinki Univ Hosp, Comprehens Canc Ctr, Dept Radiat Oncol, Helsinki, Finland.
    Arikoski, Pekka M.
    Kuopio Univ Hosp, Dept Pediat & Adolescence, Kuopio, Finland;Univ Eastern Finland, Kuopio, Finland.
    Lähteenmäki, Päivi M.
    Turku Univ Hosp, Dept Pediat & Adolescence, Turku, Finland;Turku Univ, Turku, Finland.
    Pokka, Tytti M-L
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Med Res Ctr, POB 28, Oulu 90029, Finland;Univ Oulu, POB 28, Oulu 90029, Finland.
    Arola, Mikko O.
    Tampere Univ Hosp, Dept Pediat & Adolescence, Tampere, Finland.
    Riikonen, V. Pekka
    Kuopio Univ Hosp, Dept Pediat & Adolescence, Kuopio, Finland;Univ Eastern Finland, Kuopio, Finland.
    Sirkiä, Kirsti H.
    Helsinki Univ Hosp, Dept Pediat & Adolescence, Helsinki, Finland.
    Lönnovist, Tuula R., I
    Helsinki Univ Hosp, Helsinki, Finland;Univ Helsinki, Childrens Hosp, Dept Child Neurol, Helsinki, Finland.
    Rantala, Heikki M. J.
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Med Res Ctr, POB 28, Oulu 90029, Finland;Univ Oulu, POB 28, Oulu 90029, Finland.
    Ojaniemi, Marja K.
    Oulu Univ Hosp, Dept Pediat & Adolescence, PEDEGO Res Unit, Med Res Ctr, POB 28, Oulu 90029, Finland;Univ Oulu, POB 28, Oulu 90029, Finland.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Radiation-Induced Meningiomas After Childhood Brain Tumor: A Magnetic Resonance Imaging Screening Study2019Ingår i: Journal of Adolescent and Young Adult Oncology, ISSN 2156-5333, Vol. 8, nr 5, s. 593-601Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Purpose: Childhood brain tumors (CBTs) and their treatment increase the risk of secondary neoplasms (SNs). We studied the incidence of secondary craniospinal tumors with magnetic resonance imaging (MRI) screening in a national cohort of survivors of CBT treated with radiotherapy, and we analyzed the Finnish Cancer Registry (FCR) data on SNs in survivors of CBT with radiotherapy registered as a part of the primary tumor treatment. Methods: A total of 73 survivors of CBT participated in the MRI study (mean follow-up of 19 +/- 6.2 years). The incidence of SNs in a cohort of CBT patients (N = 569) was retrieved from the FCR (mean follow-up of 11 +/- 12.9 years). Brain tumors were diagnosed at age <= 16 years between the years 1970 and 2008 in the clinical study and the years 1963 and 2010 in the FCR population. Results: Secondary brain tumors, meningiomas in all and schwannoma in one, were found in 6 of the 73 (8.2%) survivors with a mean of 23 +/- 4.3 years after the diagnosis of the primary tumor. The cumulative incidence was 10.2% (95% confidence interval [CI] 3.9-25.1) in 25 years of follow-up. In the FCR data, the 25-year cumulative incidence of SNs was 2.4% (95% CI 1.3-4.1); only two brain tumors, no meningiomas, were registered. Conclusion: Survivors of CBT treated with radiotherapy have a high incidence of meningiomas, which are rarely registered in the FCR.

  • 15.
    Tulstrup, Morten
    et al.
    Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark.
    Grosjean, Marie
    Tech Univ Denmark, Dept Bio & Hlth Informat, Lyngby, Denmark.
    Nielsen, Stine Nygaard
    Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark.
    Grell, Kathrine
    Univ Copenhagen, Fac Hlth & Med Sci, Dept Publ Hlth, Sect Biostat, Copenhagen, Denmark.
    Wolthers, Benjamin Ole
    Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark.
    Wegener, Peder Skov
    Odense Univ Hosp, Dept Pediat Hematol & Oncol, HC Andersen Childrens Hosp, Odense, Denmark.
    Jonsson, Olafur Gisli
    Landspitali Univ Hosp, Dept Pediat, Reykjavik, Iceland.
    Lund, Bendik
    Trondheim Reg & Univ Hosp, St Olavs Hosp, Dept Pediat, Trondheim, Norway;Norwegian Univ Sci & Technol, Dept Lab Med, Fac Med & Hlth Sci, Childrens & Womens Hlth, Trondheim, Norway.
    Harila-Saari, Arja H.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Abrahamsson, Jonas
    Univ Gothenburg, Sahlgrenska Acad, Dept Pediat, Inst Clin Sci, Gothenburg, Sweden.
    Vaitkeviciene, Goda
    Vilnius Univ, Fac Med, Clin Childrens Dis, Vilnius, Lithuania.
    Pruunsild, Kaie
    Talinn Childrens Hosp, Dept Oncohaematol, Tallinn, Estonia.
    Toft, Nina
    Univ Hosp Rishosp, Dept Hematol, Copenhagen, Denmark.
    Holm, Mette
    Aarhus Univ Hosp, Dept Haematol, Aarhus, Denmark.
    Hulegardh, Erik
    Sahlgrens Univ Hosp, Dept Hematol & Coagulat, Gothenburg, Sweden.
    Liestol, Sigurd
    Univ Oslo, Fac Div Ulleval Univ Hosp, Ulleval Univ Hosp, Dept Hematol, Oslo, Norway.
    Griskevicius, Laimonas
    Vilnius Univ, Fac Med, Inst Clin Med, Vilnius, Lithuania;Vilnius Univ, Hosp Santaros Klin, Hematol Oncol & Transfus Med Ctr, Vilnius, Lithuania.
    Punab, Mari
    Tartu Univ Clin, Clin Hematol & Oncol, Tartu, Estonia.
    Wang, Jinhua
    Univ Minnesota, Inst Hlth Informat, Mason Canc Ctr, Minneapolis, MN USA.
    Carroll, William L.
    NYU, Med Ctr, Dept Pediat, Perlmutter Canc Ctr, New York, NY 10016 USA.
    Zhang, Zeyu
    Tech Univ Denmark, Dept Bio & Hlth Informat, Lyngby, Denmark;Univ Chinese Acad Sci, Sino Danish Ctr Educ & Res, Beijing, Peoples R China.
    Dalgaard, Marlene D.
    Tech Univ Denmark, Dept Bio & Hlth Informat, Lyngby, Denmark.
    Gupta, Ramneek
    Tech Univ Denmark, Dept Bio & Hlth Informat, Lyngby, Denmark.
    Nersting, Jacob
    Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark.
    Schmiegelow, Kjeld
    Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Copenhagen, Denmark;Univ Copenhagen, Inst Clin Med, Copenhagen, Denmark.
    NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia2018Ingår i: Leukemia, ISSN 0887-6924, E-ISSN 1476-5551, Vol. 32, nr 12, s. 2527-2535Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The antileukaemic drug 6-mercaptopurine is converted into thioguanine nucleotides (TGN) and incorporated into DNA (DNA-TG), the active end metabolite. In a series of genome-wide association studies, we analysed time-weighted means ((wm)) of erythrocyte concentrations of TGN (Ery-TGN) and DNA-TG in 1009 patients undergoing maintenance therapy for acute lymphoblastic leukaemia (ALL). In discovery analyses (454 patients), the propensity for DNA-TG incorporation ((wm)DNA-TG/(wm)Ery-TGN ratio) was significantly associated with three intronic SNPs in NT5C2 (top hit: rs72846714; P - 2.09 x 10(-10), minor allele frequency 15%). In validation analyses (555 patients), this association remained significant during both early and late maintenance therapy (P - 8.4 x 10(-6) and 1.3 x 10(-3), respectively). The association was mostly driven by differences in (wm)Ery-TGN, but in regression analyses adjusted for wmEry-TGN (P < 0.0001), rs72846714-A genotype was also associated with a higher (wm)DNA-TG (P - 0.029). Targeted sequencing of NT5C2 did not identify any missense variants associated with rs72846714 or (wm)Ery-TGN/(wm)DNA-TG. rs72846714 was not associated with relapse risk, but in a separate cohort of 180 children with relapsed ALL, rs72846714-A genotype was associated with increased occurrence of relapse-specific NT5C2 gain-of-function mutations that reduce cytosol TGN levels (P = 0.03). These observations highlight the impact of both germline and acquired mutations in drug metabolism and disease trajectory.

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