| 1. |
- Alvariza, A., et al.
(författare)
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Increasing preparedness for caregiving and death in family caregivers of patients with severe illness who are cared for at home - study protocol for a web-based intervention
- 2020
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Ingår i: BMC Palliative Care. - : Springer Science and Business Media LLC. - 1472-684X. ; 19:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Family caregivers of patients with severe illness and in need for a palliative care approach, face numerous challenges and report having insufficient preparedness for the caregiver role as well as a need for information and psychosocial support. Preparing to care for a severely ill family members also means becoming aware of death. Feelings of being prepared are associated with positive aspects and regarded protective against negative health consequences. Methods The study adheres to the SPIRIT-guidelines (Supplementary 1), uses a pre-post design and include a web-based intervention. Inclusion criteria are; being a family caregiver of a patient with severe illness and in need of a palliative care approach. The intervention which aims to increase preparedness for caregiving and death is grounded in theory, research and clinical experience. The topics cover: medical issues, symptoms and symptom relief; communication within the couple, how to spend the time before death, being a caregiver, planning for the moment of death and; considerations of the future. The intervention is presented through videos and informative texts. The website also holds an online peer-support discussion forum. Study aims are to: evaluate feasibility in terms of framework, content, usage and partners' experiences; explore how the use of the website, influences family caregivers' preparedness for caregiving and death; explore how the use of the website influences family caregivers' knowledge about medical issues, their communication with the patient and their considerations of the future; and to investigate how the family caregivers' preparedness for caregiving and death influences their physical and psychological health and quality of life 1 year after the patient's death. Data will be collected through qualitative interviews and a study-specific questionnaire at four time-points. Discussion This project will provide information about whether support via a website has the potential to increase preparedness for caregiving and death and thereby decrease negative health consequences for family caregivers of patients affected by severe illness. It will provide new knowledge about intervention development, delivery, and evaluation in a palliative care context. Identification of factors before death and their association with family caregivers' preparedness and long-term health may change future clinical work.
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| 2. |
- Axelsson, Lena, et al.
(författare)
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Intensity of Predeath Grief and Postdeath Grief of Family Caregivers in Palliative Care in Relation to Preparedness for Caregiving, Caregiver Burden, and Social Support
- 2020
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Ingår i: Palliative Medicine Reports. - : Mary Ann Liebert. - 2689-2820. ; 1:1, s. 191-200
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Tidskriftsartikel (refereegranskat)abstract
- Background: The intensity of predeath grief is associated with postdeath grief in family caregivers of patients in palliative care. Different factors during caregiving may influence this association.Objective: To examine (1) the intensity of grief in relation to preparedness for caregiving, caregiver burden, and social support, and (2) if these variables moderate associations between predeath and postdeath grief.Methods: This prospective correlational study used unpaired t-test to compare grief in relation to preparedness for caregiving, caregiver burden, and social support. Hierarchical multiple linear regression analysis investigated moderation effects. Family caregivers were recruited from 10 palliative homecare facilities. The Anticipatory Grief Scale, Texas Revised Inventory of Grief, Preparedness for Caregiving Scale, Caregiver Burden Scale, and Multidimensional Scale of Perceived Social Support were used. Ethical approval for the study was granted by the Regional Ethical Review Board in Stockholm, Sweden.Results: In total, 128 family caregivers participated. Those with high caregiver burden scored significantly higher intensity of predeath but not postdeath grief. Caregiver burden and social support moderated the association between intensity of predeath grief and postdeath grief. There was a stronger association between predeath and postdeath grief among caregivers with low caregiver burden or low social support. Preparedness for caregiving had no moderating effect.Discussion: Attention should be directed to caregiver burden and social support during family caregiving, as these variables seem to be significant for the intensity of grief before and after the patient's death. Acknowledging predeath grief during caregiving and recognizing pre- and postdeath grief as parts of the same process are of importance in clinical practice and when designing supportive interventions.
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| 3. |
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| 4. |
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| 5. |
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| 6. |
- Doveson, Sandra, et al.
(författare)
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Facing life-prolonging treatment : The perspectives of men with advanced metastatic prostate cancer - An interview study
- 2020
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Ingår i: European Journal of Oncology Nursing. - : Elsevier. - 1462-3889 .- 1532-2122. ; 49
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Several life-prolonging treatment options have recently become available for metastatic castration-resistant prostate cancer. However, research regarding patient experiences while undergoing these treatments is scarce. The aim was to explore the perspectives of men when facing life-prolonging treatment of metastatic castration-resistant prostate cancer.METHOD: Qualitative interviews were conducted with 16 men as they were starting, undergoing or had completed their first life-prolonging treatment. Interpretive description was used for analysis.RESULTS: The results illuminate the complexity of facing life-prolonging treatment, with interlaced dimensions beyond just the outcome, and where the men described other dimensions of their lives in relation to the treatment. The results are presented as 4 themes; Considering treatment when the remainder of life is at stake, Preparing for the life-prolonging treatment after deciding to go through with it, Considering the prospect of the life-prolonging treatment not being successful and Reflecting on death and dying in the light of a life-limiting illness.CONCLUSIONS: The quality and content of the remainder of life are central for men when facing life-prolonging treatment of metastatic castration-resistant prostate cancer. This is important when weighing desired treatment outcomes against side effects, and when reflecting upon whether going through with treatment would be worth it or not. The results illuminate the importance of encouraging men at this stage to express expectations, hopes and fears regarding the treatment and the future when considering life-prolonging treatments. Nurses working with these patients are important in the decision-making process and in evaluating treatments, to detect needs for interventions.
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| 7. |
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| 8. |
- Doveson, Sandra, et al.
(författare)
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Identification of early symptoms and changes in QoL and functioning among men with primary localized prostate cancer who later develop metastases : a matched, prospective study
- 2023
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Ingår i: Palliative & Supportive Care. - : Cambridge University Press. - 1478-9515 .- 1478-9523. ; 21:2, s. 230-238
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Tidskriftsartikel (refereegranskat)abstract
- Objective To identify early symptoms and changes in QoL among men with primary localized prostate cancer (PC) who later develop metastases. Methods From an ongoing prospective study of 3.885 men with localized PC, primarily treated with radiotherapy (RT), a subsample of men developing metastatic PC (mPC) following the first year after the start of RT and that had died during the follow-up (mPC group, n = 107) were matched against men who did not develop metastases (non-mPC group, n = 214). Data were collected using the EORTC QLQ-C30 and PCSS instruments. Non-parametric tests were performed for comparisons at baseline, end of RT, 3 months, and 1, 2, 3, and 5 years after RT. Results The final sample consists of 317 men (mPC n = 106; non-mPC n = 211) who had completed at least one questionnaire. Initially, symptom levels were generally low and QoL and functioning high in both groups. An increasing difference between the groups was found, where the mPC group gradually deteriorated from the 2-year follow-up. Significant differences were found for several outcomes at 3 and 5 years. In a sensitivity analysis, where metastatic patients were removed from the time-point of verified metastases, most differences did not remain significant. Significant deterioration over time was seen within both groups for some outcomes. Significance of results The results indicate that unmet supportive needs occur over time among these men. Worsening QoL or functioning and symptoms may be difficult to recognize when the development is gradual over several years, and with various access to systematic follow-up in late phases. This highlights the need for continuous monitoring of PC patients to detect needs for supportive interventions early and throughout the disease course, also among those with non-metastatic disease who have undergone curatively intended treatment.
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| 9. |
- Holm, Maja, 1982-, et al.
(författare)
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Anhöriga till personer med palliativa behov
- 2023
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Ingår i: Stora anhörigboken. - Lund : Studentlitteratur AB. - 9789144156781 ; , s. 229-249
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 10. |
- Holm, Maja, 1982-, et al.
(författare)
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Experiences of being a severely ill parent of dependent children receiving care at home : Hopes and challenges
- 2023
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Ingår i: Palliative & Supportive Care. - 1478-9515 .- 1478-9523. ; , s. 1-5
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Multiple studies have focused on severely ill patients in the role as parents of dependent children, yet few have explored the thoughts and feelings within this group during palliative home care.METHODS: This qualitative study derives from a pilot intervention study, the Family Talk Intervention (FTI), in specialized palliative home care. The FTI is a support program with the main goal to increase family communication about illness-related topics. The study is based on field notes from 104 sessions with 20 parents taken by an interventionist during intervention delivery. The field notes were analyzed using the principles of qualitative content analysis.RESULTS: The field notes revealed several challenging situations for parents with severe illness. A major issue was how to find ways to talk to their children about their illness and prognosis. The parents expressed guilt for being unable to fulfill their roles as parents and partners. Existing family conflicts had escalated with the illness, according to some parents. Despite being affected by illness, parents tried to have hope, if only for small things - such as a period of ordinary family life.SIGNIFICANCE OF RESULTS: Severely ill parents in specialized palliative home care seek support regarding how to communicate and stay connected to their roles in the family, which is a struggle when a parent is cared for at home, while it in contrast may promote normality and hope. Communication with children is vital and needs to be brought to the attention of health-care professionals. A family-centered focus, involving both parents and children, should be embraced.
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| 11. |
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| 12. |
- Holm, Maja, 1982-, et al.
(författare)
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How parents of dependent children reason about their partner's impending death due to cancer
- 2021
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Ingår i: Death Studies. - : Informa UK Limited. - 0748-1187 .- 1091-7683.
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Tidskriftsartikel (refereegranskat)abstract
- This paper explores how bereaved parents with dependent children reasoned about their partner's impending death due to cancer. Questionnaires were used to collect data from 42 cancer-bereaved parents of dependent children in Sweden. The results showed that most of the parents had thought, at least once, that death would be best for their partner's own sake. A few parents had also thought that it would be best for everyone if their partner died. Many parents had a wish to keep up hope, no matter what. However, living with a partner with advanced illness and dependent children was described as extremely stressful.
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| 13. |
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| 14. |
- Holm, Maja, 1982-, et al.
(författare)
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Parenting a child with cancer and maintaining a healthy couple relationship : Findings from the Family Talk Intervention
- 2024
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Ingår i: Pediatric Blood & Cancer. - 1545-5009 .- 1545-5017. ; 71:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Despite the challenges that caring for a child with cancer brings for parents, little knowledge is available concerning the effects on the parents’ couple relationship. Furthermore, few interventions have been designed to support parents in their couple relationship. The aim of this paper was, therefore, to explore parents’ experiences of their couple relationship while having a dependent child with cancer and the support they received from a family-based intervention, the Family Talk Intervention (FTI).Methods Data for this paper were taken from semi-structured interviews performed in a pilot study of the FTI in the context of pediatric oncology. In total, 22 couples were interviewed after participating in the FTI. The interviews were transcribed and analyzed using qualitative content analysis.Results Parents described how maintaining a couple relationship while living with childhood cancer could be very challenging and was not given the highest priority. The FTI was considered a way of providing important support to the couple and a chance for them to sit down together and listen to each other's perspectives on the situation. Parents described that the FTI had helped them gain an increased mutual understanding, sometimes also helping them to realize that they needed more extensive professional support in their relationship.Conclusions Living with childhood cancer and upholding a healthy couple relationship is challenging for parents. The FTI has the potential to support couples, mainly by providing opportunities for parents to communicate with each other. However, some couples may be in need of a tailored clinical intervention.
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| 15. |
- Holm, Maja, et al.
(författare)
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Sources of social support and its importance for cancer-bereaved spouses and their minor children : A cross-sectional study
- 2022
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Ingår i: Death Studies. - : Informa UK Limited. - 0748-1187 .- 1091-7683. ; 46:4, s. 996-1002
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to evaluate the sources from which bereaved families with minor children reported receiving social support after the death of a parent/partner and which sources they perceived as important. Using an online platform, 23 adolescents, 42 parents, and 27 parent proxies for children aged 4-11 years, completed questionnaires. Family and friends were valued as the most important sources of social support, while social support from societal institutions, such as health care and school, was considered less important, and insufficient.
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| 16. |
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| 17. |
- Holm, Maja, et al.
(författare)
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Variations in grief, anxiety, depression, and health among family caregivers before and after the death of a close person in the context of palliative home care
- 2020
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Ingår i: Death Studies. - : Informa UK Limited. - 0748-1187 .- 1091-7683. ; 44:9, s. 531-9
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Tidskriftsartikel (refereegranskat)abstract
- This article investigates longitudinal variations in grief, self-rated health, and symptoms of anxiety and depression among family caregivers in palliative care. Data were taken from a randomized psycho-educational intervention trial and were collected at four time-points; at baseline, upon completion, 2 months later, and 6 months after the patient's death. In total, 117 family caregivers completed all questionnaires. The participants' grief was stable across the measurements, while anxiety, depression, and health varied significantly (p < 0.05). No significant differences were found between the intervention or control group. In conclusion, grief emerged as a constant phenomenon, distinct from symptoms of anxiety and depression.
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| 18. |
- Häger Tibell, Louise, et al.
(författare)
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Preparedness for caregiving and preparedness for death : Associations and modifiable thereafter factors among family caregivers of patients with advanced cancer in specialized home care
- 2024
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Ingår i: Death Studies. - : Taylor & Francis Group. - 0748-1187 .- 1091-7683. ; 48:4, s. 407-416
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to (1) explore associations between preparedness for caregiving and preparedness for death among family caregivers of patients with advanced cancer and (2) explore modifiable preparedness factors, such as communication and support. Data was derived from a baseline questionnaire collected in specialized home care. The questionnaire included socio-demographics, the Preparedness for Caregiving Scale, and single items addressing preparedness for death, received support and communication about incurable illness. Data was analyzed using descriptive statistics and Spearman correlations. Altogether 39 family caregivers participated. A significant association was found between preparedness for caregiving and preparedness for death. Received support and communication about the illness was associated with higher levels of preparedness for caregiving and death. This study contributes to evidence on the association between preparedness for caregiving and death, but also that communication and support employed by healthcare professionals could improve family caregiver preparedness and wellbeing.
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| 19. |
- Häger Tibell, Louise, et al.
(författare)
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Web-based support for spouses of patients with life-threatening illness cared for in specialized home care : A feasibility study
- 2022
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Ingår i: Palliative & Supportive Care. - : Cambridge University Press. - 1478-9515 .- 1478-9523.
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Psychoeducational interventions for family caregivers have shown to be effective but not possible for all caregivers to attend; thus, web-based interventions may be a complement. This study aimed to evaluate feasibility of a web-based intervention, "narstaende.se," from the perspective of spouses of patients receiving specialized home care.METHODS: A website was developed, containing videos with conversations between health-care professionals and family caregivers (actors), informative texts, links to further information, and a chat forum. The aim of the website is to provide support and promote preparedness for caregiving and death, and the content is theoretically and empirically grounded. The study had a descriptive cross-sectional design. Altogether, 26 spouses answered a questionnaire, before accessing the website, and 4 weeks after this, 12 spouses were interviewed. Descriptive statistics and qualitative content analysis were used.RESULTS: Spouses experienced the website as being easy to use, welcoming, and with relevant content. Participating spouses would recommend "narstaende.se" to others in similar situations, and the majority found the website introduced timely. Videos seemed easily accessible and were most used, contributing to a feeling of recognition and sharing the situation. The online format was perceived as flexible, but still not all spouses visited the website, stating the desire for support in real life.SIGNIFICANCE OF RESULTS: A web-based intervention can be feasible for spouses in specialized home care; however, the digital format is not suitable for everyone. Further research is needed to determine the website's potential to provide support and increase preparedness for family caregivers in general.
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| 20. |
- Häger Tibell, Louise, et al.
(författare)
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Webbaserat stöd för närstående inom specialiserad palliativ hemsjukvård : narstaende.se
- 2022
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Konferensbidrag (refereegranskat)abstract
- Bakgrund: Det är vanligt att närstående tar stort ansvar för vård i hemmet men också att de känner sig oförberedda inför livet med en svårt sjuk partner. Många upplever en psykiskt och social påfrestning, nedsatt hälsa och bristande insikt om framtiden. Högre grad av förberedelse kan bidra till mindre oro, ångest, nedstämdhet och bättre välbefinnande. Med syfte att erbjuda stöd har en webbplats, narstaende.se, innehållande filmer där sjukvårdspersonal (autentiska) möter närstående (skådespelare) i en situation likt den de närstående befinner sig i utvecklats. Det finns även informativa texter samt länkar till vidare information och ett chattforum.Syfte: Att utvärdera användbarhet, innehåll och de närståendes upplevelse av narstaende.se.Metod: Närstående vid ASIH enheter i Stockholm inkluderas och de besvarar en enkät innan tillgång tillwebbplatsen samt efter 4 veckor. I enkät två ingår frågor om användande av webbplatsen, hur de uppfattat filmer, texter, länkar samt chatt, inverkan på förberedelse att vårda. De närstående som samtycker intervjuas för att få djupare förståelse.Resultat: Data från enkäter visar att flertalet anser att tillgången till narstaende.se kom vid lämplig tidpunkt och att de skulle rekommendera den till andra i liknande situation. I intervjuer har närstående uttryckt att de tagit vara på dagarna på ett annat sätt, känt stöd i att arbeta eller vara hemma mer, göra aktiviteter på egen hand, förberett praktiska frågor samt fått bekräftelse i att ”det här är vanligt eller naturligt att känna”. Några uttrycker att delar av informationen samt enkäterna varit till särskild hjälp, tankar och känslor har väckts som kan vara svåra men som samtidigt beskrivs viktiga i bearbetning av situationen.Betydelse: Projektet kan ge kunskap om hur stöd i webbaserad form tas emot, om och hur det används och om intervention kan bidra till ökad förberedelse.
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| 21. |
- Norinder, Maria, et al.
(författare)
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Higher levels of unmet support needs in spouses are associated with poorer quality of life - a descriptive cross-sectional study in the context of palliative home care
- 2021
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Ingår i: BMC Palliative Care. - : BioMed Central (BMC). - 1472-684X. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundFamily caregivers often report having unmet support needs when caring for someone with life-threatening illness. They are at risk for psychological distress, adverse physical symptoms and negatively affected quality of life. This study aims to explore associations between family caregivers' support needs and quality of life when caring for a spouse receiving specialized palliative home care.MethodsA descriptive cross-sectional design was used: 114 family caregivers completed the Carer Support Needs Assessment Tool (CSNAT) and the Quality of Life in Life-Threatening Illness - Family caregiver version (QOLLTI-F) and 43 of them also answered one open-ended question on thoughts about their situation. Descriptive statistics, multiple linear regression analyses, and qualitative content analysis, were used for analyses.ResultsHigher levels of unmet support needs were significantly associated with poorer quality of life. All CSNAT support domains were significantly associated with one or more quality of life domains in QOLLTI-F, with the exception of the QoL domain related to distress about the patient condition. However, family caregivers described in the open-ended question that their life was disrupted by the patient's life-threatening illness and its consequences. Family caregivers reported most the need of more support concerning knowing what to expect in the future, which they also described as worries and concerns about what the illness would mean for them and the patient further on. Lowest QoL was reported in relation to the patient's condition, and the family caregiver's own physical and emotional health.ConclusionWith a deeper understanding of the complexities of supporting family caregivers in palliative care, healthcare professionals might help to increase family caregivers' QoL by revealing their problems and concerns. Thus, tailored support is needed.
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| 22. |
- Rönningås, Ulrika, et al.
(författare)
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Signs and symptoms in relation to progression, experiences of an uncertain illness situation in men with metastatic castration-resistant prostate cancer : A qualitative study
- 2022
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Ingår i: European Journal of Cancer Care. - : Wiley-Blackwell. - 0961-5423 .- 1365-2354. ; 31:4
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Signs and symptoms are important in monitoring prostate cancer, but there is a lack of understanding about the men's interpretation of signs and symptoms in relation to disease progression in advanced phases of the disease. The aim was to illuminate the experience of signs and symptoms in relation to disease progression in men with metastatic castration-resistant prostate cancer (mCRPC).METHOD: Thirty longitudinal interviews were conducted with 11 men undergoing life-prolonging treatment for mCRPC. Conventional content analysis was used.RESULTS: The results illuminate an uncertainty that the men experience when interpreting signs and symptoms. The overarching theme was The experience of an uncertain illness situation within the framework of progression, with four subthemes: Symptoms triggering thoughts about disease progression; Making sense of signs, also in the absence of symptoms; Making sense of symptoms during treatment; Progression triggering thoughts about the remainder of life.CONCLUSION: In the uncertain illness situation, the men strive to make sense of signs and symptoms based on previous experiences and in relation to disease progression. Understanding the men's perspectives on signs and symptoms in this late phase may help health care professionals communicate about disease progression considering the balance between treatment outcome and quality of life.
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| 23. |
- Rönningås, Ulrika, et al.
(författare)
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Symptoms and quality of life among men starting treatment for metastatic castration-resistant prostate cancer : a prospective multicenter study
- 2024
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Ingår i: BMC Palliative Care. - : BioMed Central (BMC). - 1472-684X. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Men with metastatic castration-resistant prostate cancer (mCRPC) have an incurable disease. Along with prolonging life, symptom management is one of the main goals with treatment. This is also important from a palliative care perspective where the life prolonging outcomes should be balanced with quality of life (QoL) in this late phase. It is also essential in symptom management to view different dimensions of symptoms, for example how severe or distressing symptoms are, to support best QoL. Therefore, more knowledge is needed about the symptom experience when these treatments are initiated and thus the aim of this study was to describe different dimensions of symptoms in men with mCRPC starting their first-line of life-prolonging treatment, and to describe the association between symptom burden and QoL.METHODS: Baseline data from a prospective longitudinal study of 143 men with mCRPC starting their first-line life-prolonging treatment were used. Symptoms were measured using the Memorial Symptom Assessment Scale (MSAS) and global QoL was measured by the EORTC QLQ C-30. Data was analyzed using descriptive- and multivariable linear regression analyses.RESULTS: On average, the men had more than 10 symptoms (range 0-31 of 33). 50% or more reported sweats, lack of energy, pain, problems with sexual activity and sexual desire. The symptoms they reported as most severe, or most distressing were not always the ones that were reported as most frequent. There was an association between QoL and physical symptoms, and also between QoL, and analgesic use and prostate-specific antigen (PSA) values.CONCLUSION: Even if some men with mCRPC report many symptoms, the dimensions of severity and distress levels vary, and the most frequent symptoms was not always the most burdensome or distressing. There was an association between high physical symptom burden and QoL, suggesting that it is not the number of symptoms that affects QoL but rather the subjective perceived impact of the physical symptoms experienced. The knowledge of how men with mCRPC experience and perceive their symptoms may help health care professionals in symptom management aiming to improve QoL, which is a cornerstone in integrating early palliative care.
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| 24. |
- Schepke, Elizabeth, et al.
(författare)
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DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours: A prospective population-based study
- 2022
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Ingår i: Neuropathology and Applied Neurobiology. - : Wiley. - 0305-1846 .- 1365-2990. ; 48:6
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Tidskriftsartikel (refereegranskat)abstract
- Aims: Paediatric brain tumours are rare, and establishing a precise diagnosis can be challenging. Analysis of DNA methylation profiles has been shown to be a reliable method to classify central nervous system (CNS) tumours with high accuracy. We aimed to prospectively analyse CNS tumours diagnosed in Sweden, to assess the clinical impact of adding DNA methylation-based classification to standard paediatric brain tumour diagnostics in an unselected cohort. Methods: All CNS tumours diagnosed in children (0-18 years) during 2017-2020 were eligible for inclusion provided sufficient tumour material was available. Tumours were analysed using genome-wide DNA methylation profiling and classified by the MNP brain tumour classifier. The initial histopathological diagnosis was compared with the DNA methylation-based classification. For incongruent results, a blinded re-evaluation was performed by an experienced neuropathologist. Results: Two hundred forty tumours with a histopathology-based diagnosis were profiled. A high-confidence methylation score of 0.84 or more was reached in 78% of the cases. In 69%, the histopathological diagnosis was confirmed, and for some of these also refined, 6% were incongruent, and the re-evaluation favoured the methylation-based classification. In the remaining 3% of cases, the methylation class was non-contributory. The change in diagnosis would have had a direct impact on the clinical management in 5% of all patients. Conclusions: Integrating DNA methylation-based tumour classification into routine clinical analysis improves diagnostics and provides molecular information that is important for treatment decisions. The results from methylation profiling should be interpreted in the context of clinical and histopathological information.
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| 25. |
- Schepke, Elizabeth, et al.
(författare)
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Supratentorial CNS-PNETs in children; a Swedish population-based study with molecular re-evaluation and long-term follow-up
- 2023
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Ingår i: Clinical Epigenetics. - : Springer Science and Business Media LLC. - 1868-7075 .- 1868-7083. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundMolecular analyses have shown that tumours diagnosed as supratentorial primitive neuro-ectodermal tumours of the central nervous system (CNS-PNETs) in the past represent a heterogenous group of rare childhood tumours including high-grade gliomas (HGG), ependymomas, atypical teratoid/rhabdoid tumours (AT/RT), CNS neuroblastoma with forkhead box R2 (FOXR2) activation and embryonal tumour with multi-layered rosettes (ETMR). All these tumour types are rare and long-term clinical follow-up data are sparse. We retrospectively re-evaluated all children (0-18 years old) diagnosed with a CNS-PNET in Sweden during 1984-2015 and collected clinical data.MethodsIn total, 88 supratentorial CNS-PNETs were identified in the Swedish Childhood Cancer Registry and from these formalin-fixed paraffin-embedded tumour material was available for 71 patients. These tumours were histopathologically re-evaluated and, in addition, analysed using genome-wide DNA methylation profiling and classified by the MNP brain tumour classifier.ResultsThe most frequent tumour types, after histopathological re-evaluation, were HGG (35%) followed by AT/RT (11%), CNS NB-FOXR2 (10%) and ETMR (8%). DNA methylation profiling could further divide the tumours into specific subtypes and with a high accuracy classify these rare embryonal tumours. The 5 and 10-year overall survival (OS) for the whole CNS-PNET cohort was 45% +/- 12% and 42% +/- 12%, respectively. However, the different groups of tumour types identified after re-evaluation displayed very variable survival patterns, with a poor outcome for HGG and ETMR patients with 5-year OS 20% +/- 16% and 33% +/- 35%, respectively. On the contrary, high PFS and OS was observed for patients with CNS NB-FOXR2 (5-year 100% for both). Survival rates remained stable even after 15-years of follow-up.ConclusionsOur findings demonstrate, in a national based setting, the molecular heterogeneity of these tumours and show that DNA methylation profiling of these tumours provides an indispensable tool in distinguishing these rare tumours. Long-term follow-up data confirms previous findings with a favourable outcome for CNS NB-FOXR2 tumours and poor chances of survival for ETMR and HGG.
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