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1.
BMC Palliat Care ; 23(1): 130, 2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38778373

RESUMO

BACKGROUND: Globally, children with cancer often experience delays in palliative care referral or are infrequently referred. Therefore, we conducted a qualitative study to gain insight from paediatric oncologists into what enables or deters palliative care referral. Strategic solutions to develop integrated palliative care was a critical study theme. In this paper, we have explained and interpreted these strategic solutions through the lens of feedback intervention theory. METHODOLOGY: The study findings were interpreted using Kumar's six-step approach that enabled systematic evaluation of a theory's appropriateness and alignment with the researcher's paradigm, methodology, and study findings. It also explained how theory informed analysis and elucidated challenges or the development of new models. The feedback intervention theory appraises the discrepancy between actual and desired goals and provides feedback to improve it. RESULTS: Strategic solutions generated from the study findings were coherent with the aspects elucidated in theory, like coping mechanisms, levels of feedback hierarchy, and factors determining the effect of the feedback intervention on performance. Paediatric oncologists suggested integrating palliative care providers in the team innocuously, improving communication between teams, relabelling palliative care as symptom control, and working with a skilled and accessible palliative care team. The paper proposes an infinite loop model developed from the study, which has the potential to foster integrated palliative care through excellent collaboration and continuous feedback. CONCLUSION: Applying feedback intervention theory can bridge the gap between actual and desired practice for integrated cancer palliative care in paediatric oncology.


Assuntos
Oncologistas , Cuidados Paliativos , Pesquisa Qualitativa , Humanos , Cuidados Paliativos/métodos , Cuidados Paliativos/normas , Oncologistas/psicologia , Masculino , Feminino , Neoplasias/terapia , Neoplasias/psicologia , Pediatria/métodos , Retroalimentação , Atitude do Pessoal de Saúde , Encaminhamento e Consulta
2.
J Pediatr Nurs ; 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39025711

RESUMO

PROBLEM: The terminal phase of childhood cancer poses profound physical and mental challenges for children, simultaneously influencing parents and rendering them particularly susceptible to psychosocial issues. ELIGIBILITY CRITERIA: This review included studies exploring the experiences of either: (1) paediatric terminal oncology patients aged under 18 years, (2) parents with a child facing terminal cancer undergoing palliative care, or (3) parents with a child who had undergone palliative care and died. English language, qualitative journal studies or grey literature of any care settings, geographical locations and publication years were included. Studies exploring the experiences of (1) paediatric terminal oncology not receiving palliative care from qualified healthcare professionals, and (3) non-biological parents or non-parental family members, were excluded. SAMPLE: A total of 22 studies were included, published between January 2000 and December 2023. Seventy-two children (aged between 5 and 18 years old) and 236 parents (aged between 24 and 57 years old) participated across all studies. Palliative care settings mostly comprised oncology centres, hospitals and homes. RESULTS: Two themes were identified from the 22 included studies: (1) Navigating rough waters and enduring hardships, and (2) Preparing for end-of-life amidst the looming threat of death. CONCLUSIONS: This review underscored the importance of integrating palliative childhood cancer care in a holistic, age-specific, family-centred, person-centred and timely manner. IMPLICATIONS: Paediatric oncology nurses should attend to physical and psychosocial needs of children and parents, fostering familial and social ties while recognising cultural and spiritual needs. Future research could recruit participants of varying ages, genders, and cultures.

3.
Indian J Palliat Care ; 30(2): 163-167, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38846133

RESUMO

Objectives: The burden of advanced and metastatic cancer is high among children in developing countries, and palliative care (PC) services for children are sparsely available and poorly accessed. To estimate the burden of PC requirements in children with metastatic neuroblastoma (NB), and to evaluate the PC services offered. Materials and Methods: Retrospective analysis of case records of children 1-14 years diagnosed with metastatic NB from 1 January 2008 to 31 December 2017. Results: One hundred and nineteen patients with metastatic NB were included, of which 87 patients received PC consultation. Early PC referral occurred only in 13 patients (14.9%), and pain was the most prominent symptom. Shifting of care from oncology to PC occurred at disease relapse in 58 patients (66.6%) and at end-of-life in 16 patients (18.3%). Nausea/vomiting, constipation and abdominal distension were the most common symptoms during end-of-life. Seventy-one patients (85%) died of disease, median time to death being 9 months from diagnosis and 4 months from relapse. The mean time from initiation of PC to death was 4.2 months. Conclusion: Timely integration of PC and shared care incorporating the oncology team, PC team and local paediatricians can ease out transition in care, ensure a continuum of care and improve the quality of treatment delivered to children with metastatic cancer.

4.
Br J Haematol ; 201(3): 449-458, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36647302

RESUMO

The aim of this study was to compare the genomic features and clinical outcomes between paediatric and young adult patients (PAYA, <40 years) and older adults (OA, ≥40 years) with myeloproliferative neoplasms (MPN) to gain insight into pathogenesis, disease prognosis and management. Of 630 MPN patients, 171 (27%) were PAYA with an average age at diagnosis of 31 years. Females were more prevalent in PAYA than OA (71% vs 58%; p = 0.002), and PAYA more frequently presented with essential thrombocytosis (ET) at diagnosis (67% vs 39%; p < 0.001). The presence of a JAK2 somatic mutation was higher in OA (80.4% vs 64.3%; p < 0.001), while a CALR mutation or lack of any traditional driver mutation was more common in PAYA (20.5% vs 10.5%; p = 0.001, 8.8% vs 3.7%; p = 0.01 respectively). Venous thrombosis was more common in PAYA compared to OA (19.8% vs 10.7%; p = 0.002). PAYA had a higher prevalence of familial MPN and familial cancer predisposition, and two PAYA patients harboured pathogenic germline JAK2 lesions. PAYA demonstrated longer survival from diagnosis than OA (median not reached vs 13 years), while disease transformation was less frequent (19.3% vs 37.9%).


Assuntos
Transtornos Mieloproliferativos , Neoplasias , Trombocitemia Essencial , Feminino , Humanos , Adulto Jovem , Criança , Idoso , Adulto , Mutação , Transtornos Mieloproliferativos/epidemiologia , Transtornos Mieloproliferativos/genética , Transtornos Mieloproliferativos/patologia , Trombocitemia Essencial/epidemiologia , Trombocitemia Essencial/genética , Trombocitemia Essencial/diagnóstico , Prognóstico , Janus Quinase 2/genética , Calreticulina/genética
5.
Acta Neuropathol ; 145(5): 651-666, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37014508

RESUMO

Group 4 tumours (MBGrp4) represent the majority of non-WNT/non-SHH medulloblastomas. Their clinical course is poorly predicted by current risk-factors. MBGrp4 molecular substructures have been identified (e.g. subgroups/cytogenetics/mutations), however their inter-relationships and potential to improve clinical sub-classification and risk-stratification remain undefined. We comprehensively characterised the paediatric MBGrp4 molecular landscape and determined its utility to improve clinical management. A clinically-annotated discovery cohort (n = 362 MBGrp4) was assembled from UK-CCLG institutions and SIOP-UKCCSG-PNET3, HIT-SIOP-PNET4 and PNET HR + 5 clinical trials. Molecular profiling was undertaken, integrating driver mutations, second-generation non-WNT/non-SHH subgroups (1-8) and whole-chromosome aberrations (WCAs). Survival models were derived for patients ≥ 3 years of age who received contemporary multi-modal therapies (n = 323). We first independently derived and validated a favourable-risk WCA group (WCA-FR) characterised by ≥ 2 features from chromosome 7 gain, 8 loss, and 11 loss. Remaining patients were high-risk (WCA-HR). Subgroups 6 and 7 were enriched for WCA-FR (p < 0·0001) and aneuploidy. Subgroup 8 was defined by predominantly balanced genomes with isolated isochromosome 17q (p < 0·0001). While no mutations were associated with outcome and overall mutational burden was low, WCA-HR harboured recurrent chromatin remodelling mutations (p = 0·007). Integration of methylation and WCA groups improved risk-stratification models and outperformed established prognostication schemes. Our MBGrp4 risk-stratification scheme defines: favourable-risk (non-metastatic disease and (i) subgroup 7 or (ii) WCA-FR (21% of patients, 5-year PFS 97%)), very-high-risk (metastatic disease with WCA-HR (36%, 5-year PFS 49%)) and high-risk (remaining patients; 43%, 5-year PFS 67%). These findings validated in an independent MBGrp4 cohort (n = 668). Importantly, our findings demonstrate that previously established disease-wide risk-features (i.e. LCA histology and MYC(N) amplification) have little prognostic relevance in MBGrp4 disease. Novel validated survival models, integrating clinical features, methylation and WCA groups, improve outcome prediction and re-define risk-status for ~ 80% of MBGrp4. Our MBGrp4 favourable-risk group has MBWNT-like excellent outcomes, thereby doubling the proportion of medulloblastoma patients who could benefit from therapy de-escalation approaches, aimed at reducing treatment induced late-effects while sustaining survival outcomes. Novel approaches are urgently required for the very-high-risk patients.


Assuntos
Neoplasias Cerebelares , Meduloblastoma , Criança , Humanos , Meduloblastoma/patologia , Fatores de Risco , Mutação/genética , Aberrações Cromossômicas , Neoplasias Cerebelares/patologia , Prognóstico
6.
Eur J Nucl Med Mol Imaging ; 50(4): 1146-1157, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36504277

RESUMO

PURPOSE: Meta-[18F]fluorobenzylguanidine ([18F]mFBG) is a positron emission tomography (PET) radiotracer that allows for fast and high-resolution imaging of tumours expressing the norepinephrine transporter. This pilot study investigates the feasibility of [18F]mFBG PET-CT for imaging in neuroblastoma. METHODS: In a prospective, single-centre study, we recruited children with neuroblastoma, referred for meta-[123I]iodobenzylguanidine ([123I]mIBG) scanning, consisting of total body planar scintigraphy in combination with single-photon emission computed tomography-CT (SPECT-CT). Within two weeks of [123I]mIBG scanning, total body PET-CTs were performed at 1 h and 2 h after injection of [18F]mFBG (2 MBq/kg). Detected tumour localisations on scan pairs were compared. Soft tissue disease was quantified by number of lesions and skeletal disease by SIOPEN score. RESULTS: Twenty paired [123I]mIBG and [18F]mFBG scans were performed in 14 patients (median age 4.9 years, n = 13 stage 4 disease and n = 1 stage 4S). [18F]mFBG injection was well tolerated and no related adverse events occurred in any of the patients. Mean scan time for [18F]mFBG PET-CT (9.0 min, SD 1.9) was significantly shorter than for [123I]mIBG scanning (84.5 min, SD 10.5), p < 0.01. Most tumour localisations were detected on the 1 h versus 2 h post-injection [18F]mFBG PET-CT. Compared to [123I]mIBG scanning, [18F]mFBG PET-CT detected a higher, equal, and lower number of soft tissue lesions in 40%, 55%, and 5% of scan pairs, respectively, and a higher, equal, and lower SIOPEN score in 55%, 30%, and 15% of scan pairs, respectively. On average, two more soft tissue lesions and a 6-point higher SIOPEN score were detected per patient on [18F]mFBG PET-CT compared to [123I]mIBG scanning. CONCLUSION: Results of this study demonstrate feasibility of [18F]mFBG PET-CT for neuroblastoma imaging. More neuroblastoma localisations were detected on [18F]mFBG PET-CT compared to [123I]mIBG scanning. [18F]mFBG PET-CT shows promise for future staging and response assessment in neuroblastoma. TRIAL REGISTRATION: Dutch Trial Register NL8152.


Assuntos
Neuroblastoma , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Pré-Escolar , Humanos , 3-Iodobenzilguanidina , Neuroblastoma/diagnóstico por imagem , Neuroblastoma/patologia , Projetos Piloto , Tomografia por Emissão de Pósitrons/métodos , Estudos Prospectivos
7.
J Oncol Pharm Pract ; 29(5): 1237-1245, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36464835

RESUMO

Paediatric oncology patients who develop severe chemotherapy-induced toxicity that requires dose reduction, delay or termination of treatment are at risk of decreased treatment efficacy. Previous research has provided evidence that genetic variants in TPMT, NUDT15, UGT1A1 and DPYD are associated with toxicity of anticancer drugs. This led to pharmacogenetic guidelines that are integrated into clinical practice in paediatric oncology. Recently, novel genetic variants have been associated with a higher risk of developing chemotherapy-induced toxicity. In this case series, we selected 21 novel variants and genotyped these in nine patients with excessive chemotherapy-induced toxicity using whole exome sequencing or micro-array data. We observed that six out of nine patients carried at least one variant that, according to recent studies, potentially increased the risk of developing methotrexate- or vincristine-induced toxicity. As patient-derived genetic data are becoming widely accessible in paediatric oncology, these variants could potentially enter clinical practice to mitigate chemotherapy-induced toxicity.


Assuntos
Antineoplásicos , Neoplasias , Criança , Humanos , Antineoplásicos/efeitos adversos , Genótipo , Metotrexato/efeitos adversos , Farmacogenética , Neoplasias/tratamento farmacológico , Neoplasias/genética
8.
J Oncol Pharm Pract ; 29(1): 83-87, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34693799

RESUMO

BACKGROUND: The treatment options available to children with cancer are limited. This is why for more than 10 years, the European Medicine Agency (EMA) has stated that all drugs to be marketed must be tested on the paediatric population in accordance with the Paediatric Investigation Plan (PIP). The objective of this study is to make a cross sectional analysis of the information related to the use of cancer drugs authorised on the European market in the paediatric population. METHOD: The European Public Assessment Reports and PIPs have been considered. The following data were extracted for onco-haematological drugs approved since 2016: paediatric indications, information about the paediatric population in the Summary of Product Characteristics (SmPC) and presence and characteristics of PIPs. A descriptive analysis of the characteristics of the drugs was made from the point of view of the paediatric population. RESULTS: Forty-eight drugs with onco-haematological indications have been authorised for marketing since 2016, 7 (15%) of these have paediatric indications. Two (4%) drugs have no paediatric indication but have information related to the paediatric population within SmPC. Forty-one (85%) drugs have no reference to the paediatric population in SmPC. Seventeen (35%) drugs out of 48 do not have PIPs and 11 have been granted a waiver to present the results of paediatric studies. The other 19 active ingredients have a total of 28 PIPs. CONCLUSION AND RELEVANCE: Most of the onco-haematological drugs approved by EMA since 2016 have neither paediatric indications nor mentions about paediatric use in SmPC. PIPs represent an opportunity, but demand for the paediatric population is still huge.


Assuntos
Aprovação de Drogas , Criança , Humanos , Estudos Transversais , Europa (Continente)
9.
BMC Med Ethics ; 24(1): 23, 2023 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-36918868

RESUMO

BACKGROUND: Research is crucial to improve treatment, survival and quality of life for children with cancer. However, recruitment of children for research raises ethical challenges. The aim of this study was to explore and describe ethical values and challenges related to the recruitment of children with cancer for research, from the perspectives and experiences of healthcare professionals in the Swedish context. Another aim was to explore their perceptions of research ethics competence in recruiting children for research. METHODS: An explorative qualitative study using semi-structured interviews with key informants. Seven physicians and ten nurses were interviewed. Interviews were analysed using inductive qualitative content analysis. RESULTS: The respondents' ethical challenges and values in recruitment mainly concerned establishing relationships and trust, meeting informational needs, acknowledging vulnerability, and balancing roles and interests. Ensuring ethical competence was raised as important, and interpersonal and communicative skills were highlighted. CONCLUSION: This study provides empirical insight into recruitment of children with cancer, from the perspectives of healthcare professionals. It also contributes to the understanding of recruitment as a relational process, where aspects of vulnerability, trust and relationship building are important, alongside meeting informational needs. The results provide knowledge on the complexities raised by paediatric research and underpin the importance of building research ethics competence to ensure that the rights and interests of children with cancer are protected in research.


Assuntos
Neoplasias , Qualidade de Vida , Humanos , Criança , Suécia , Pessoal de Saúde , Neoplasias/terapia , Pesquisa Qualitativa , Atitude do Pessoal de Saúde
10.
Br J Haematol ; 196(1): 31-44, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34169507

RESUMO

Epstein-Barr virus (EBV) is a ubiquitous herpesvirus with rare but severe potential for lymphoproliferative complications. EBV is associated with a variety of presentations of haemophagocytic lymphohistiocytosis (HLH). HLH is a life-threatening hyperinflammatory syndrome that can occur in patients with genetic defects associated with dysregulation of the immune response (familial HLH) or arise in patients with underlying infection or malignancy (non-familial or secondary HLH). EBV can both serve as the incidental trigger of familial HLH or as the driving factor in patients with selective inherited vulnerability (e.g. X-linked lymphoproliferative disease). Alternatively, acute infection can idiosyncratically cause non-neoplastic HLH in patients without inherited predisposition (i.e. secondary HLH), while EBV-associated T/natural killer (NK)-cell lymphoproliferative disorders and lymphomas can cause neoplasia-associated HLH. The present review will discern between EBV-associated familial and non-familial HLH and highlight diagnostic and therapeutic considerations. Non-familial EBV-associated HLH is a major diagnostic dilemma, as it represents a diverse spectrum of disease ranging from highly curable (non-neoplastic EBV-HLH) to indolent but incurable (chronic active EBV) to acutely fatal (systemic EBV-positive T-cell lymphoma of childhood). Increased clinical awareness and understanding of this rare and potentially devastating subset of EBV-related complications is desperately needed to improve survival for patients with neoplasia-associated HLH.


Assuntos
Suscetibilidade a Doenças , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/virologia , Herpesvirus Humano 4/fisiologia , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/metabolismo , Algoritmos , Biomarcadores , Biópsia , Medula Óssea/patologia , Tomada de Decisão Clínica , Citocinas/metabolismo , Gerenciamento Clínico , Predisposição Genética para Doença , Humanos , Células Matadoras Naturais/imunologia , Células Matadoras Naturais/metabolismo , Células Matadoras Naturais/patologia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia , Linfoma de Células T/diagnóstico , Linfoma de Células T/etiologia , Linfoma de Células T/metabolismo , Mutação , Perforina/genética , Subpopulações de Linfócitos T/imunologia , Subpopulações de Linfócitos T/metabolismo , Subpopulações de Linfócitos T/patologia
11.
HIV Med ; 23(2): 197-203, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34634187

RESUMO

OBJECTIVES: Kaposi sarcoma (KS) is one of the most common childhood cancers in eastern and central Africa. It has become a treatable disease with increasing availability of antiretroviral therapy (ART) and chemotherapy. We aimed to fill the data gap in establishing whether long-term survival is achievable for children in low-income countries. METHODS: We retrospectively analysed data for children and adolescents aged ≤ 18.9 years diagnosed with HIV-related or endemic KS from 2006 to 2015 who received standardized institutional treatment regimens utilizing chemotherapy plus ART (if HIV-positive) at a tertiary care public hospital in Lilongwe, Malawi. Long-term survival was analysed and mortality was associated with KS for those with refractory/progressive disease at the time of death. RESULTS: There were 207 children/adolescents with KS (90.8% HIV-related); 36.7% were alive, 54.6% had died, and 8.7% had been lost to follow-up. The median follow-up time for survivors was 6.9 years (range 4.2-13.9 years). Death occurred at a median of 5.3 months after KS diagnosis (range 0.1-123 months). KS progression was associated with mortality for most (61%) early deaths (survival time of < 6 months); conversely, KS was associated with a minority (31%) of late-onset deaths (after 24 months). The 7-year overall survival was 37% [95% confidence interval (CI) 30-44%] and was higher for those diagnosed between 2011 and 2015 compared to 2006-2010: 42% (95% CI 33-51%) versus 29% (95% CI 20-39%), respectively (P = 0.01). Among the 66 HIV-positive survivors, 58% were still on first-line ART. CONCLUSIONS: Long-term survival is possible for pediatric KS in low-resource settings. Despite better survival in more recent years, there remains room for improvement.


Assuntos
Infecções por HIV , Sarcoma de Kaposi , Adolescente , Criança , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Humanos , Malaui/epidemiologia , Estudos Retrospectivos , Sarcoma de Kaposi/tratamento farmacológico , Sarcoma de Kaposi/epidemiologia
12.
Eur J Nucl Med Mol Imaging ; 49(11): 3852-3869, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35536420

RESUMO

Positron emission tomography (PET) has been widely used in paediatric oncology. 2-Deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) is the most commonly used radiopharmaceutical for PET imaging. For oncological brain imaging, different amino acid PET radiopharmaceuticals have been introduced in the last years. The purpose of this document is to provide imaging specialists and clinicians guidelines for indication, acquisition, and interpretation of [18F]FDG and radiolabelled amino acid PET in paediatric patients affected by brain gliomas. There is no high level of evidence for all recommendations suggested in this paper. These recommendations represent instead the consensus opinion of experienced leaders in the field. Further studies are needed to reach evidence-based recommendations for the applications of [18F]FDG and radiolabelled amino acid PET in paediatric neuro-oncology. These recommendations are not intended to be a substitute for national and international legal or regulatory provisions and should be considered in the context of good practice in nuclear medicine. The present guidelines/standards were developed collaboratively by the EANM and SNMMI with the European Society for Paediatric Oncology (SIOPE) Brain Tumour Group and the Response Assessment in Paediatric Neuro-Oncology (RAPNO) working group. They summarize also the views of the Neuroimaging and Oncology and Theranostics Committees of the EANM and reflect recommendations for which the EANM and other societies cannot be held responsible.


Assuntos
Fluordesoxiglucose F18 , Glioma , Aminoácidos , Criança , Glioma/diagnóstico por imagem , Humanos , Tomografia por Emissão de Pósitrons/métodos , Compostos Radiofarmacêuticos
13.
Psychooncology ; 31(5): 832-839, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34981598

RESUMO

BACKGROUND: The long-term psychological/neuro-psychological sequalae for a minority of survivors of childhood cancer are considerable. This project aims to develop and validate a psychosocial and memory/learning distress thermometer (DT) for paediatric/young adult cancer patients. METHODS: Pilot/Development Age-appropriate versions of the DT were developed. A pilot study tested acceptability, usability, and design. VALIDATION: Seven collaborating paediatric-oncology centres with 549 participants validated the DT against Strengths and difficulties questionnaire (SDQ) and Hospital Anxiety and depression scale (HADS) for psychological issues, Utilities Index Mark 2 (HUI2) for memory/learning issues, PedsQL and SF-8 measured quality of life. RESULTS: Using a cut-off of four, sensitivity against SDQ for under 18 was 75.8%, 18plus against HADS was 94.1%. The specificity was 53.3% against the SDQ for the 18plus specificity against the HADS was 47.1%. The sensitivity against the HUI2 for all age groups was 89.0% specificity was 70.3%. CONCLUSION: The DT is a valid and reliable measure screening instrument. It can be used to identify early on those experiencing psychological distress and memory problems.


Assuntos
Neoplasias , Qualidade de Vida , Ansiedade/diagnóstico , Criança , Depressão/diagnóstico , Depressão/psicologia , Humanos , Programas de Rastreamento , Neoplasias/psicologia , Projetos Piloto , Psicometria , Qualidade de Vida/psicologia , Estresse Psicológico/diagnóstico , Estresse Psicológico/psicologia , Inquéritos e Questionários , Termômetros , Adulto Jovem
14.
J Med Genet ; 58(1): 20-24, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32179705

RESUMO

BACKGROUND: Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone. METHODS AND RESULTS: We followed here a coincidental finding in a multiple endocrine neoplasia family in which a 32-year-old patient carrying a germline pathogenic RET mutation developed an osteosarcoma 2 years after the resection of a medullary thyroid carcinoma. Sequencing analysis of additional 336 patients with osteosarcoma led to the identification of germline activating mutations in the RET proto-oncogene in three cases and somatic amplifications of the gene locus in five matched tumours (4%, n=5/124 tumours). Functional analysis of the pathogenic variants together with an integrative analysis of osteosarcoma genomes confirmed that the mutant RET proteins couple functional kinase activity to dysfunctional ligand binding. RET mutations further co-operated with alterations in TP53 and RB1, suggesting that osteosarcoma pathogenesis bears reminiscence to the stepwise model of medullary thyroid carcinoma. CONCLUSIONS: After Li-Fraumeni-predisposing mutations in TP53, RET becomes the second most mutated cancer-predisposing gene in the germline of patients with osteosarcoma. Hence, early identification of RET mutation carriers can help to identify at-risk family members and carry out preventive measures.


Assuntos
Carcinoma Neuroendócrino/genética , Osteossarcoma/genética , Proteínas Proto-Oncogênicas c-ret/genética , Proteínas de Ligação a Retinoblastoma/genética , Neoplasias da Glândula Tireoide/genética , Proteína Supressora de Tumor p53/genética , Ubiquitina-Proteína Ligases/genética , Adulto , Idoso , Carcinoma Neuroendócrino/complicações , Carcinoma Neuroendócrino/epidemiologia , Carcinoma Neuroendócrino/patologia , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa/genética , Humanos , Masculino , Osteossarcoma/complicações , Osteossarcoma/epidemiologia , Osteossarcoma/patologia , Pediatria , Proto-Oncogene Mas , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/patologia
15.
Eur J Cancer Care (Engl) ; 31(6): e13680, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35965390

RESUMO

OBJECTIVE: This study aimed to explore the attitudes, practices and work-related experiences among Swedish physicians regarding the referral process, integration and transition between oncology care and palliative care (PC). METHODS: A cross-sectional online survey was performed with a study-specific questionnaire in 2016-2017 in south-eastern Sweden. Physicians working with cancer patients within surgical specialties, medical specialties and paediatric oncology participated. RESULTS: The vast majority of the 130 participating physicians (99.2%) stated that PC was beneficial for the patient and were positive about early integration of PC (65.5%). Still, only 27.6% of the participants introduced PC at an early stage of non-curable disease. However, paediatric oncologists had a very early introduction of PC in comparison with medical specialties (p = 0.004). Almost 90% of the study population said they wanted to know that the patient had been taken care of by another care facility. CONCLUSIONS: Despite the physicians' positive attitude towards early integration and referral to PC, they often acted late in the disease trajectory. This late approach can reduce the patient's opportunity of improving quality of life during severe circumstances. There is a need for in-depth knowledge of the physicians' challenges in order to bridge the gap between intentions and actions.


Assuntos
Neoplasias , Médicos , Criança , Humanos , Cuidados Paliativos , Suécia , Estudos Transversais , Qualidade de Vida , Encaminhamento e Consulta , Neoplasias/terapia
16.
Eur J Cancer Care (Engl) ; 31(6): e13679, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35942909

RESUMO

OBJECTIVE: In face of disparities in access to cancer care, it has been proposed to measure accessibility and to explore policy strategies for mitigating inequality of access. We aimed to determine the accessibility of Swiss paediatric oncology centres. METHODS: We employed spatial accessibility analysis, calculating driving time to nearest facility. Four data types were used: disaggregated population data, administrative data, street network data and addresses of centres. Besides analysing general accessibility, we compared access of urban versus rural areas and of Swiss citizens versus foreign residents and evaluated designating a new centre to improve accessibility. RESULTS: Overall, 97.4% could reach the nearest centre within 120 min (95.0% < 90 min, 86.5% < 60 min, 48.5% < 30 min). Accessibility could most effectively be improved by a new centre in Sion (city in the southwest of Switzerland). Access in urban areas was better than in rural areas. In urban areas, access of European Union/European Free Trade Association (EU/EFTA) and non-European residents was better than access of Swiss citizens and residents from non-EU European countries. CONCLUSION: Access is satisfactory. However, our study presents high-resolution insights which could serve as points of leverage for policymakers to mitigate inequalities by designating a new centre and to evaluate potential benefits of centralisation.


Assuntos
Emigrantes e Imigrantes , Neoplasias , Criança , Humanos , Suíça , Acessibilidade aos Serviços de Saúde , População Rural , Neoplasias/terapia , População Urbana
17.
Eur J Cancer Care (Engl) ; 31(2): e13544, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35088493

RESUMO

OBJECTIVE: The present systematic review and meta-analysis aimed to analyse the effects of administered interventions on the quality of life of children with cancer in Turkey. METHODS: The quantitative studies conducted with paediatric oncology patients, analysing the quality of life of Turkish children, and published papers from 2009 to 2019 were searched. Joanna Briggs Institution MAStARI Experimental and Quasi-Experimental Research Control List and Quality Index were used for methodological assessment. Five studies comprising a total of 264 samples were included. Four studies were nonrandomised controlled trials, and one was a quasi-experimental study. RESULTS: Tests for heterogeneity showed that the studies, which included interventions increasing the quality of life of children with cancer, were heterogeneous. The common effect size of all studies on quality of life was determined as having a strong positive effect. CONCLUSIONS: This meta-analysis and systematic review contribute to the knowledge of Turkish health care professionals regarding these interventions by producing results with high levels of evidence on the improvement of the quality of life among children with cancer. The present study also significantly raises awareness and encourages health care professionals to implement interventions for the improvement of quality of life among children with cancer.


Assuntos
Neoplasias , Qualidade de Vida , Criança , Pessoal de Saúde , Humanos , Neoplasias/psicologia , Neoplasias/terapia , Turquia
18.
Eur J Cancer Care (Engl) ; 31(6): e13727, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36239087

RESUMO

OBJECTIVE: It was aimed to systematically synthesise the available literature on examining the effect of chewing gum in the management/reduction of chemotherapy-induced oral mucositis in children. METHODS: The PRISMA was followed for the systematic review. All published studies obtained from the relevant databases were examined while the research question and inclusion and exclusion criteria were considered. The Joanna Briggs Institute (JBI) critical appraisal tools were used to evaluate the quality of the studies. RESULTS: A total of five studies met the inclusion criteria: three randomised controlled trials (RCT) and two quasi-experimental studies with a total of 461 paediatric oncology patients were included. Heterogeneity was found across all studies regarding the application of gum chewing and regarding the effectiveness of gum chewing. Two RTCs and one quasi-experimental study reported that gum chewing is not effective to reduce severe oral mucositis, but effective to reduce moderate and mild oral mucositis, and one RTC reported that gum chewing is not effective to reduce oral mucositis. CONCLUSION: Experimental studies particularly randomised controlled trials using rigorous designs, consistent outcome measures, and larger sample sizes are required to determine the efficacy of chewing gum in reducing chemotherapy-induced oral mucositis in paediatric oncology patients. Study was registered in PROSPERO and number was CRD42022328916.


Assuntos
Antineoplásicos , Goma de Mascar , Estomatite , Criança , Humanos , Antineoplásicos/efeitos adversos , Neoplasias/tratamento farmacológico , Ensaios Clínicos Controlados Aleatórios como Assunto , Estomatite/induzido quimicamente , Estomatite/prevenção & controle
19.
Eur J Cancer Care (Engl) ; 31(2): e13554, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35129840

RESUMO

OBJECTIVE: The objective of this work is to compare posttraumatic stress symptoms (PTSS) between families of children on cancer treatment and families of healthy children in China and to analyse the association among child PTSS, parent PTSS, and depression in the cancer group. METHODS: Participants were children on cancer treatment (n = 91) and their parents (n = 91), and healthy children (n = 114) and their parents (n = 96). The children were asked to self-report PTSS, and the parents completed self-reported measures of PTSS and depression. RESULTS: Although the prevalence of probable PTSD in children on cancer treatment was higher than that in comparisons (8.79% vs. 0.88%, P < 0.01), no statistic differences in PTSS levels were found between the two groups (P > 0.05). However, significant differences in PTSS levels and the prevalence of severe PTSS (21.98% vs. 1.04%) between parents of children with cancer and comparisons were observed (P < 0.001). Parent PTSS and depression were positively associated with child PTSS in the cancer group (P < 0.01). CONCLUSION: The prevalence of probable PTSD in Chinese children with cancer was low, but PTSS was remarkably prevalent in their parents. Greater parent PTSS and depression were related to greater child PTSS. Results underline the importance to provide supportive psychological care for Chinese parents of children undergoing cancer treatment.


Assuntos
Neoplasias , Transtornos de Estresse Pós-Traumáticos , Criança , Humanos , Estudos Longitudinais , Neoplasias/complicações , Pais/psicologia , Prevalência , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/psicologia
20.
BMC Pediatr ; 22(1): 210, 2022 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-35428281

RESUMO

BACKGROUND: Although advance care planning (ACP) has been widely recommended to support patient and family engagement in understanding the patient's values, preferences and goals of care, there are only a few models in paediatric oncology that capture ACP as a process of behaviour change. We aimed to develop and test the acceptability and feasibility of BOOST pACP (Benefits of Obtaining Ownership Systematically Together in paediatric Advance Care Planning) - an intervention to improve ACP in adolescents with cancer, their parents and paediatric oncologists. METHODS: Several methods informed the intervention development process: 1) Problem identification: interviews with 11 healthcare professionals working in paediatric oncology; 2) Identification of evidence: literature review of existing pACP tools and barriers and facilitators in performing pACP; 3) Logic model and 4) Intervention design: collaborative expert meetings with researchers and professionals in pACP; 5a) Acceptability test of the materials: interviews with nine healthcare professionals, four adolescents and young adults with cancer and six parents; 5b) Feasibility test of core intervention components with three families, including interviews about their experiences. RESULTS: The BOOST pACP intervention was iteratively developed and adapted, based on feedback from families, healthcare professionals, and pACP experts (e.g., components were changed, deleted, and added; formulation of themes and associated questions were amended to enhance acceptability). The core components of the BOOST pACP intervention include: four ACP conversation sessions with the adolescent and/or parent(s) provided by a trained facilitator, structured by interactive conversation cards covering different ACP themes, followed by a transfer of information from the intervention facilitator to the paediatric oncologist. Core intervention components were deemed feasible by all participating families. CONCLUSION: The BOOST pACP intervention was developed by close involvement of both adolescent patients and their parents, healthcare professionals and pACP experts. The final intervention and supporting materials are considered appropriate and feasible. Its effectiveness in improving parent-adolescent communication on ACP themes is currently being tested in a multi-centre randomised controlled trial. Researchers aiming to develop a complex psychosocial intervention for a vulnerable target group could use the step-by-step approach described in this paper.


Assuntos
Planejamento Antecipado de Cuidados , Neoplasias , Adolescente , Criança , Comunicação , Estudos de Viabilidade , Humanos , Neoplasias/terapia , Pais , Adulto Jovem
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