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  • 1.
    Chand, Damini
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för molekylärbiologi (Medicinska fakulteten).
    Yamazaki, Yasuo
    Umeå universitet, Teknisk-naturvetenskapliga fakulteten, Institutionen för molekylärbiologi (Teknisk-naturvetenskaplig fakultet).
    Ruuth, Kristina
    Umeå universitet, Medicinska fakulteten, Institutionen för molekylärbiologi (Medicinska fakulteten).
    Schönherr, Christina
    Umeå universitet, Medicinska fakulteten, Institutionen för molekylärbiologi (Medicinska fakulteten).
    Martinsson, Tommy
    Gothenburg, Sweden.
    Kogner, Per
    Stockholm, Sweden.
    Attiyeh, Edward F
    Philadelphia, PA 19104, USA .
    Maris, John
    Philadelphia, PA 19104, USA .
    Morozova, Olena
    Vancouver, British Columbia V5Z 4S6, Canada .
    Marra, Marco A
    Vancouver, British Columbia V5Z 4S6, Canada .
    Ohira, Miki
    Chiba 260-8717, Japan.
    Nakagawara, Akira
    Chiba 260-8717, Japan.
    Sandström, Per-Erik
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Palmer, Ruth H
    Umeå universitet, Medicinska fakulteten, Institutionen för molekylärbiologi (Medicinska fakulteten).
    Hallberg, Bengt
    Umeå universitet, Medicinska fakulteten, Institutionen för molekylärbiologi (Medicinska fakulteten).
    Cell culture and Drosophila model systems define three classes of anaplastic lymphoma kinase mutations in neuroblastoma2013Ingår i: Disease Models and Mechanisms, ISSN 1754-8403, E-ISSN 1754-8411, Vol. 6, nr 2, s. 373-382Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Neuroblastoma is a childhood extracranial solid tumor which is associated with a number of genetic changes. Included in these genetic alterations are mutations in the kinase domain of the Anaplastic Lymphoma Kinase (ALK) receptor tyrosine kinase (RTK), which have been found in both somatic and familial neuroblastoma. In order to treat patients accordingly required characterisation of these mutations in terms of their response to ALK tyrosine kinase inhibitors (TKIs). Here, we report the identification and characterisation of two novel neuroblastoma ALK mutations (A1099T and 1464STOP) which we have investigated together with several previously reported but uncharacterised ALK mutations (T1087I, D1091N, T1151M, M1166R, F1174I and A1234T). In order to understand the potential role of these ALK mutations in neuroblastoma progression we have employed cell culture based systems together with the model organism Drosophila as a readout for ligand-independent activity. Mutation of ALK at position F1174I generates a gain-of-function receptor capable of activating intracellular targets, such as ERK (extracellular signal regulated kinase) and STAT3 (signal transducer and activator of transcription 3) in a ligand independent manner. Analysis of these previously uncharacterised ALK mutants and comparison with ALK(F1174) mutants suggests that ALK mutations observed in neuroblastoma fall into three classes. These are: (i) gain-of-function ligand independent mutations such as ALK(F1174), (ii) kinase-dead ALK mutants, e.g. ALK(I1250T)(Schonherr et al 2011a) or (iii) ALK mutations which are ligand-dependent in nature. Irrespective of the nature of the observed ALK mutants, in every case the activity of the mutant ALK receptors could be abrogated by the ALK inhibitor crizotinib (PF-02341066, Xalkori), albeit with differing levels of sensitivity.

  • 2. Gnekow, Astrid K.
    et al.
    Walker, David A.
    Kandels, Daniela
    Picton, Susan
    Perilongo, Giorgio
    Grill, Jacques
    Stokland, Tore
    Sandström, Per Eric
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Warmuth-Metz, Monika
    Pietsch, Torsten
    Giangaspero, Felice
    Schmidt, Rene
    Faldum, Andreas
    Kilmartin, Denise
    De Paoli, Angela
    De Salvo, Gian Luca
    A European randomised controlled trial of the addition of etoposide to standard vincristine and carboplatin induction as part of an 18-month treatment programme for childhood (<= 16 years) low grade glioma - A final report2017Ingår i: European Journal of Cancer, ISSN 0959-8049, E-ISSN 1879-0852, Vol. 81, s. 206-225Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: The use of chemotherapy to manage newly diagnosed low grade glioma (LGG) was first introduced in the 1980s. One randomised trial has studied two-versus four-drug regimens with a duration of 12 months of treatment after resection. Methods: Within the European comprehensive treatment strategy for childhood LGG, the International Society of Paediatric OncologyeLow Grade Glioma (SIOP LGG) Committee launched a randomised trial involving 118 institutions and 11 countries to investigate the addition of etoposide (100 mg/m(2), days 1, 2 & 3) to a four-course induction of vincristine (1.5 mg/m(2) x 10 wkly) and carboplatin (550 mg/m(2) q 3 weekly) as part of 18-month continuing treatment programme. Patients were recruited after imaging diagnosis, resection or biopsy with progressive disease/symptoms. Some 497 newly diagnosed patients (M/F 231/266; median age 4.26 years (interquartile range (IQR) 2.02-7.06)) were randomised to receive vincristine carboplatin (VC) (n = 249) or VC plus etoposide (VCE) during induction (n = 248), stratified by age and tumour site. Findings: No differences between the two arms were found in term of survival and radiological response. Response and non-progression rates at 24 weeks for VC and VCE, were 46% versus 41%, and 93% versus 91% respectively; 5-year Progression-Free Survival (PFS) and Overall Survival (OS) were 46% (StDev 3.5) versus 45% (StDev 3.5) and 89% (StDev 2.1) versus 89% (StDev 2.1) respectively. Age and diencephalic syndrome are adverse clinical risk factors for PFS and OS. 5-year OS for patients in early progression at week 24 were 46% (StDev 13.8) and 49% (StDev 16.5) in the two arms, respectively. Interpretation: The addition of etoposide to VC did not improve PFS or OS. High non-progression rates at 24 weeks justify retaining VC as standard first-line therapy. Infants with diencephalic syndrome and early progression need new treatments to be tested. Future trials should use neurological/visual and toxicity outcomes and be designed to discriminate between the impact on disease outcomes of 'duration of therapy' and 'age at stopping therapy'.

  • 3. Gnekow, Astrid K.
    et al.
    Walker, David A.
    Kandels, Daniela
    Picton, Susan
    Perilongo, Giorgio
    Grill, Jacques
    Stokland, Tore
    Sandström, Per Eric
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Warmuth-Metz, Monika
    Pietsch, Torsten
    Giangaspero, Felice
    Schmidt, Rene
    Faldum, Andreas
    Kilmartin, Denise
    De Paoli, Angela
    De Salvo, Gian Luca
    Corrigendum to “A European randomised controlled trial of the addition of etoposide to standard vincristine and carboplatin induction as part of an 18-month treatment programme for childhood (≤16 years) low grade glioma – A final report” [Eur J of Canc (2017) 206–225]2018Ingår i: European Journal of Cancer, ISSN 0959-8049, E-ISSN 1879-0852, Vol. 90, s. 156-157Artikel i tidskrift (Refereegranskat)
  • 4. Hjorth, Lars
    et al.
    Arvidson, Johan
    Behrendtz, Mikael
    Garwicz, Stanislaw
    Jarfelt, Marianne
    Lannering, Birgitta
    Martinsson, Ulla
    Melin, Beatrice
    Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
    Petersen, Cecilia
    Sandström, Per-Erik
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Söderhäll, Stefan
    Hög överlevnad efter barncancer, ibland till högt pris: [High survival after childhood cancer, sometimes at a high price]2010Ingår i: Läkartidningen, ISSN 0023-7205, E-ISSN 1652-7518, Vol. 107, nr 42, s. 2572-2575Artikel i tidskrift (Refereegranskat)
    Abstract [sv]

    I dag lever 80 procent av patienterna med cancer i barn- och ungdomsåren fem år efter diagnos.

    Ungefär 6 000–7 000 individer i Sverige är före detta barncancerpatienter.

    Sena komplikationer till sjukdom och behandling ses hos 60–70 procent av överlevarna.

    Extra utsatta är de med hjärntumör, de som strålbehandlats och vissa grupper som stamcellstransplanterats.

    Inte alla som behandlats för cancer i barn- och ungdomsåren drabbas av sena komplikationer.

    En kohortstudie bestående av alla i Norden som under 20 års ålder insjuknade i cancer (n ≈55 000) åren 1943–2008 har påbörjats 2010.

    Riktlinjer för uppföljning efter barncancer baserat på given behandling har tagits fram av Svenska arbetsgruppen för långtidsuppföljning efter barncancer (SALUB).

  • 5. Knobe, Karin
    et al.
    Tedgard, Ulf
    Ek, Torben
    Sandström, Per-Erik
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Hillarp, Andreas
    Lupus anticoagulants in two children-bleeding due to nonphospholipid-dependent antiprothrombin antibodies2012Ingår i: European Journal of Pediatrics, ISSN 0340-6199, E-ISSN 1432-1076, Vol. 171, nr 9, s. 1383-1387Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    We describe two children with significant bleeding: one with multiple ecchymoses and the other with scrotal bleeding. In both patients, the activated partial thromboplastin time (APTT) was prolonged, with positivity for lupus anticoagulants (LA). However, the Owren prothrombin time (PT), usually insensitive for LA, was also prolonged. The presence of LA is associated with diverse clinical manifestations, with most patients being asymptomatic while others present venous or arterial thrombosis. Bleeding in conjunction with LA is rare and it is unusual to see prolongation of the Owren PT assay due to LA. An extended laboratory investigation of one of the patient's plasma revealed not only LA but also a specific nonphospholipid-dependent antiprothrombin antibody causing an acquired hypoprothrombinemia. Conclusion: It is likely that the low prothrombin activity and not the LA caused the bleeding. The bleeding signs and symptoms in both patients subsided when the PT was normalized, although the prolonged APTT and the LA remained.

  • 6. Lannering, Birgitta
    et al.
    Sandström, Per-Erik
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Holm, Stefan
    Lundgren, Johan
    Pfeifer, Susan
    Samuelsson, Ulf
    Strömberg, Bo
    Gustafsson, Göran
    Classification, incidence and survival analyses of children with CNS tumours diagnosed in Sweden 1984-20052009Ingår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 98, nr 10, s. 1620-1627Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The mean annual incidence of children with CNS tumours was 4.2/100,000 and has not increased during the study period. Survival rate for brain tumours at 10 years follow-up was 72%.

  • 7.
    Stattin, Eva-Lena
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Medicinsk och klinisk genetik. Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Henning, Petra
    Klar, Joakim
    McDermott, Emma
    Stecksen-Blicks, Christina
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi.
    Sandström, Per-Erik
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Kellgren, Therese G
    Umeå universitet, Teknisk-naturvetenskapliga fakulteten, Institutionen för matematik och matematisk statistik.
    Rydén, Patrik
    Umeå universitet, Teknisk-naturvetenskapliga fakulteten, Institutionen för matematik och matematisk statistik.
    Hallmans, Göran
    Umeå universitet, Medicinska fakulteten, Enheten för biobanksforskning.
    Lönnerholm, Torsten
    Ameur, Adam
    Helfrich, Miep H
    Coxon, Fraser P
    Dahl, Niklas
    Wikström, Johan
    Lerner, Ulf H
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi. Centre for Bone and Arthritis Research, Department of internal medicine and clinical nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts2017Ingår i: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 7, artikel-id 3012Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of Västerbotten in Northern Sweden. All afflicted individuals had an onset in early infancy with optic atrophy, and in four patients anemia was present at diagnosis. Tonsillar herniation, foramen magnum stenosis, and severe osteomyelitis of the jaw were common clinical features. Whole exome sequencing, verified by Sanger sequencing, identified a splice site mutation c.212 + 1 G > T in the SNX10 gene encoding sorting nexin 10. Sequence analysis of the SNX10 transcript in patients revealed activation of a cryptic splice site in intron 4 resulting in a frame shift and a premature stop (p.S66Nfs * 15). Haplotype analysis showed that all cases originated from a single mutational event, and the age of the mutation was estimated to be approximately 950 years. Functional analysis of osteoclast progenitors isolated from peripheral blood of patients revealed that stimulation with receptor activator of nuclear factor kappa-B ligand (RANKL) resulted in a robust formation of large, multinucleated osteoclasts which generated sealing zones; however these osteoclasts exhibited defective ruffled borders and were unable to resorb bone in vitro.

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