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- Sandgren, J, et al.
(author)
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Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency
- 2015
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In: BioMed research international. - : Hindawi Limited. - 2314-6141 .- 2314-6133. ; 2015, s. 862039-
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Journal article (peer-reviewed)abstract
- Background. AT/RTs are rare aggressive brain tumours, mainly affecting young children. Most cases present with genetic inactivation ofSMARCB1, a core member of the SWI/SNF chromatin-remodeling complex. We have performed whole exome- and mRNA-sequencing on an early onset AT/RT case for detection of genetic events potentially contributing to the disease.Results. Ade novogermline variant inSMARCB1, c.601C>T p.Arg201∗, in combination with somatic deletion of the healthy allele is likely the major tumour causing event. Only seven somatic small scale mutations were discovered (hittingSEPT03, H2BFM, ZIC4, HIST2H2AB, ZIK1, KRTAP6-3, andIFNA8). All were found with subclonal allele frequencies (range 5.7–17%) and none were expressed. However, besidesSMARCB1, candidate genes affected by predicted damaging germline variants that were expressed were detected (KDM5C, NUMA1, andPCM1). Analysis of differently expressed genes revealed many dysregulated pathways in the tumour, such as cell cycle, CXCR4 pathway, GPCR-signalling, and neuronal system.FGFR1, CXCR4, andMDKwere upregulated and may represent possible drug targets.Conclusion. The loss ofSMARCB1function leads to AT/RT development and deregulated genes and pathways. Additional predisposing events may however contribute. Studies utilizing NGS technologies in larger cohorts will probably identify recurrent genetic and epigenetic alterations and molecular subgroups with implications for clinical practice and development of targeted therapies.
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- Djos, Anna, 1983, et al.
(author)
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Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation
- 2022
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In: Diagnostics. - : MDPI AG. - 2075-4418. ; 12:9
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Journal article (peer-reviewed)abstract
- A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the ALK gene is frequently mutated in both familial and sporadic neuroblastoma. Sanger sequencing of ALK and PHOX2B, SNP microarray of three tumor samples and whole genome sequencing of tumor and blood were performed. Genetic testing revealed a germline ALK F11741 mutation that was present in all tumor samples as well as in normal tissue samples from the patient. Neither of the patient's parents presented the ALK variant. Array profiling of the three tumor samples showed that two of them had only numerical aberrations, whereas one sample displayed segmental alterations, including a gain at chromosome 2p, resulting in two copies of the ALK-mutated allele. Whole genome sequencing confirmed the presence of the ALK variant and did not detect any aberrations in the coding or promotor region of PHOX2B. This study is to our knowledge the first to report a de novo ALK F11741 germline mutation. This may not only predispose to congenital multifocal neuroblastoma but may also contribute to the respiratory dysfunction seen in this patient.
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- Jaworowski, A J, et al.
(author)
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Determination of NO adsorption sites on Pd(100) using core level photoemission and low energy electron diffraction
- 2002
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In: Surface Science. - 0039-6028. ; 501:1-2, s. 74-82
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Journal article (peer-reviewed)abstract
- The adsorption of NO on Pd(1 0 0) is investigated with high resolution core level spectroscopy and low energy electron diffraction (LEED). Several ordered NO overlayers were observed, in agreement with earlier Studies. Our data clearly show that NO adsorbs in fourfold hollow sites at coverages tip to 0.25 -0.30 monolayer (ML) whereas at 0.5 ML only bridge sites are occupied. By a reinterpretation of previous electron energy loss spectroscopy (EELS) investigations we show that the new site assignments are in agreement the EELS data, Based on the photoemission results for the N 1s and the Pd 3d core levels we propose new structure models for the (2root2 x 2root2)R45degrees and the p(4 x 2) LEED patterns found at coverages of 0.5 and 0.25 ML, respectively. In the latter case, it is suggested that the p(4 x 2) LEED pattern is formed from domains having p(2 x 2)-NO and c(4 x 2)-2NO unit cells.
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- Nistér, M, et al.
(author)
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The Swedish Biobank for Childhood Tumors
- 2014
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In: 7th research meeting in Network for NeuroBlastoma and CNS-tumor research in children, Hässelby, Stockholm, November 10-11, 2014..
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Conference paper (peer-reviewed)
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