| 1. |
- Nistér, M, et al.
(författare)
-
The Swedish Biobank for Childhood Tumors
- 2014
-
Ingår i: 7th research meeting in Network for NeuroBlastoma and CNS-tumor research in children, Hässelby, Stockholm, November 10-11, 2014..
-
Konferensbidrag (refereegranskat)
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Djos, Anna, 1983, et al.
(författare)
-
Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation
- 2022
-
Ingår i: Diagnostics. - : MDPI AG. - 2075-4418. ; 12:9
-
Tidskriftsartikel (refereegranskat)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.
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
- Grunnet, N., et al.
(författare)
-
Selected activities in Scandiatransplant
- 2005
-
Ingår i: Transplantation proceedings. - 0041-1345. ; 37:8, s. 3243-7
-
Tidskriftsartikel (refereegranskat)abstract
- Scandiatransplant is the Nordic organ exchange organization. It has existed for 35 years and it is owned by all organ transplantation hospital departments in the five Nordic countries--Denmark, Finland, Iceland, Norway, and Sweden. The use of living organ donors for kidney transplantation has become a more common procedure not only in Norway but also in Sweden and Denmark. For the first time, in 2003, one transplant center performed relatively more living donor kidney transplantations than with deceased donors. The overall organ transplant activity reveals a remarkably stable situation in the area covered by Scandiatransplant. Scandiatransplant as an organ exchange organization has changed from a solely kidney exchange organization to an organization in which the more immediate vital organs as liver and heart are exchanged more commonly than kidneys.
|
|
| 14. |
- Madsen, M., et al.
(författare)
-
Application of human leukocyte antigen matching in the allocation of kidneys from cadaveric organ donors in the Nordic countries
- 2004
-
Ingår i: Transplantation. - 0041-1337. ; 77:4, s. 621-3
-
Tidskriftsartikel (refereegranskat)abstract
- The Nordic organ exchange organization Scandiatransplant was founded in 1969. It covers a population of 24.41 million inhabitants in five countries: Denmark (5.45 million), Finland (5.19 million), Iceland (0.29 million), Norway (4.54 million), and Sweden (8.94 million). Initially, the purpose of Scandiatransplant was to establish and maintain a common waiting list for all Nordic patients with end-stage renal failure waiting for a cadaveric kidney transplant. The basis of maintaining a common Nordic waiting list was the recognition of the wide polymorphism of the human leukocyte antigen system, which demands a substantial pool of waiting patients to provide optimal histocompatibility matching between organ donor and recipient. Thus, one of the major tasks of the organization was and still is to specify rules for the exchange of kidneys between the participating transplant centers. Scandiatransplant includes the cooperation of all 10 Nordic kidney transplant centers in addition to eight immunology laboratories. Denmark has four transplant centers located in Copenhagen, Herlev, Odense, and Aarhus. Finland has one center in Helsinki. Norway has one center located in Oslo. Sweden has four kidney transplantation centers located in each of the university hospitals in Goteborg, Malmo, Stockholm, and Uppsala. The fifth Nordic country, Iceland, is participating fully in organ donation but has no individual transplant center. Organ transplantation in Icelandic patients is performed in other Nordic countries.
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
- Sandgren, J, et al.
(författare)
-
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
-
Ingår i: BioMed research international. - : Hindawi Limited. - 2314-6141 .- 2314-6133. ; 2015, s. 862039-
-
Tidskriftsartikel (refereegranskat)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.
|
|
