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1دورية أكاديمية
المساهمون: Yuri Seo, Hyun Taek Lim, Byung Joo Lee, Jinu Han, Seo, Yuri
مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities / genetics, Adolescent, Humans, Male, Metalloendopeptidases / genetics, Mutation, Optic Atrophy* / diagnosis, Optic Atrophy* / genetics, Optic Atrophy* / pathology, Optic Atrophy, Autosomal Dominant, Paraplegia / genetics, Phenotype, Spastic Paraplegia, Hereditary* / complications, Hereditary* / diagnosis, Hereditary* / genetics, SPG7, autosomal dominant optic atrophy, infantile nystagmus syndrome
الوصف: Spastic paraplegia is a neurodegenerative disorder characterized by progressive leg weakness and spasticity due to degeneration of corticospinal axons. SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an autosomal recessive trait. Various ophthalmological findings including optic atrophy, ophthalmoplegia, or nystagmus have been reported in patients with spastic paraplegia type 7. We report a 15-year-old male patient with a novel heterozygous variant, c.1224T>G:p.(Asp408Glu) in SPG7 (NM_003119.3) causing early onset isolated optic atrophy and infantile nystagmus prior to the onset of neurological symptoms. Therefore, SPG7 should be considered a cause of infantile nystagmus with optic atrophy. ; restriction
العلاقة: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; J00091; OAK-2023-00601; OAK-2023-00602; https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test; T202301866; AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.191(2) : 582-585, 2023-02
الإتاحة: https://doi.org/10.1002/ajmg.a.63037Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test -
2دورية أكاديمية
المؤلفون: Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Hanson, Helen
المصدر: Lalloo , F , Kulkarni , A , Chau , C , Nielsen , M , Sheaff , M , Steele , J , van Doorn , R , Wadt , K , Hamill , M , Torr , B , Tischkowitz , M , Hanson , H & Delphi respondents 2023 , ' Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome ' , European Journal of Human Genetics , vol. 31 , no. 11 , pp. 1261-1269 . https://doi.org/10.1038/s41431-023-01448-zTest
مصطلحات موضوعية: Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Kidney Neoplasms/genetics, Melanoma/genetics, Mesothelioma/diagnosis, Neoplastic Syndromes, Hereditary/diagnosis, Tumor Suppressor Proteins/genetics, Ubiquitin Thiolesterase/genetics
الوصف: BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma and specific non-malignant neoplasms of the skin, as part of the autosomal dominant BAP1-tumour predisposition syndrome. The overall lifetime risk for BAP1 carriers to develop at least one BAP1-associated tumour is up to 85%, although due to ascertainment bias, current estimates of risk are likely to be overestimated. As for many rare cancer predisposition syndromes, there is limited scientific evidence to support the utility of surveillance and, therefore, management recommendations for BAP1 carriers are based on expert opinion. To date, European recommendations for BAP1 carriers have not been published but are necessary due to the emerging phenotype of this recently described syndrome and increased identification of BAP1 carriers via large gene panels or tumour sequencing. To address this, the Clinical Guideline Working Group of the CanGene-CanVar project in the United Kingdom invited European collaborators to collaborate to develop guidelines to harmonize surveillance programmes within Europe. Recommendations with respect to BAP1 testing and surveillance were achieved following literature review and Delphi survey completed by a core group and an extended expert group of 34 European specialists including Geneticists, Ophthalmologists, Oncologists, Dermatologists and Pathologists. It is recognised that these largely evidence-based but pragmatic recommendations will evolve over time as further data from research collaborations informs the phenotypic spectrum and surveillance outcomes.
الإتاحة: https://doi.org/10.1038/s41431-023-01448-zTest
https://pure.au.dk/portal/en/publications/0142e746-a7c9-4a88-93f4-19434892dc20Test
http://www.scopus.com/inward/record.url?scp=85168608297&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: Drouet, Christian, López-Lera, Alberto, Ghannam, Arije, López-Trascasa, Margarita, Cichon, Sven, Ponard, Denise, Parsopoulou, Faidra, Grombirikova, Hana, Freiberger, Tomáš, Rijavec, Matija, Veronez, Camila, L, Pesquero, João, Bosco, Germenis, Anastasios, E
المساهمون: Institut Cochin Departement Infection, immunité, inflammation, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University Grenoble Alpes, Grenoble University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), CIBERER U-754, Madrid, KininX, University Grenoble Alpes, Hospital Universitario La Paz, Université de Bâle = University of Basel = Basel Universität (Unibas), Grenoble University Hospital, Grenoble, France, CeMIA, Larissa, Masaryk University, Centre for Cardiovascular Surgery and Transplantation Brno and Medical Faculty, University Clinic of Respiratory and Allergic Diseases Golnik, Federal University of São Paolo, Department of Biophysics, Centre for Research and Genetic Diagnosis of Genetic Diseases, University of Thessaly Larissa, Ministry of Health, Czech Republic, grant no.NV18-05-00330, Ministry of Education, Youth and Sports, Czech Republic, grant no.MUNI/A/1099/2019
المصدر: ISSN: 2673-6101 ; Frontiers in Allergy ; https://hal.univ-grenoble-alpes.fr/hal-04464374Test ; Frontiers in Allergy, 2022, 3, pp.835503. ⟨10.3389/falgy.2022.835503⟩.
مصطلحات موضوعية: C1-INH-HAE, C1 Inhibitor, SERPING1 gene, genetic variation, serpin function, serpinopathy, angioedema, hereditary-diagnosis, C1-INH-HAE C1 Inhibitor SERPING1 gene genetic variation serpin function serpinopathy angioedema hereditary-diagnosis, [SDV]Life Sciences [q-bio]
الوصف: International audience ; Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene ( n = 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability of SERPING1 and pertaining to 5.6% de novo variants. C1-INH is the major control serpin of the kallikrein–kinin system (KKS). In addition, C1-INH controls complement C1 and plasminogen activation, both systems contributing to inflammation. Recognizing the failed control of C1s protease or KKS provides the diagnosis of C1-INH-HAE. SERPING1 variants usually behave in an autosomal-dominant character with an incomplete penetrance and a low prevalence. A great majority of variants (809/893; 90.5%) that were introduced into online database have been considered as pathogenic/likely pathogenic. Haploinsufficiency is a common feature in C1-INH-HAE where a dominant-negative variant product impacts the wild-type allele and renders it inactive. Small (36.2%) and large (8.3%) deletions/duplications are common, with exon 4 as the most affected one. Point substitutions with missense variants (32.2%) are of interest for the serpin structure–function relationship. Canonical splice sites can be affected by variants within introns and exons also (14.3%). For noncanonical sequences, exon skipping has been confirmed by splicing analyses of patients' blood-derived RNAs ( n = 25). Exonic variants ( n = 6) can affect exon splicing. Rare deep-intron variants ( n = 6), putatively acting as pseudo-exon activating mutations, have been characterized as pathogenic. Some variants have been characterized as benign/likely benign/of uncertain significance ( n = 74). This category includes some homozygous ( n = 10) or compound heterozygous variants ( n = 11). They are presenting with minor allele frequency (MAF) below 0.00002 (i.e., lower than C1-INH-HAE frequency), and may be quantitatively unable to cause haploinsufficiency. Rare benign variants could contribute as disease modifiers. ...
العلاقة: hal-04464374; https://hal.univ-grenoble-alpes.fr/hal-04464374Test; https://hal.univ-grenoble-alpes.fr/hal-04464374/documentTest; https://hal.univ-grenoble-alpes.fr/hal-04464374/file/2203Drouet_SERPING1%20%26%20C1INH%20rev_FrontAllergy.pdfTest
الإتاحة: https://doi.org/10.3389/falgy.2022.835503Test
https://hal.univ-grenoble-alpes.fr/hal-04464374Test
https://hal.univ-grenoble-alpes.fr/hal-04464374/documentTest
https://hal.univ-grenoble-alpes.fr/hal-04464374/file/2203Drouet_SERPING1%20%26%20C1INH%20rev_FrontAllergy.pdfTest -
4دورية أكاديمية
المؤلفون: Ruutila, Minna, Fagerholm, Per, Lagali, Neil, Hjortdal, Jesper, Bram, Thue, Yamaguchi, Takefumi, Moilanen, Jukka, Krootila, Kari, Kivelä, Tero T
المصدر: Ruutila , M , Fagerholm , P , Lagali , N , Hjortdal , J , Bram , T , Yamaguchi , T , Moilanen , J , Krootila , K & Kivelä , T T 2024 , ' Does Corneal Topography Using 3-Dimensional Optical Coherence Tomography Suggest Different Subtypes of Terrien Marginal Degeneration? ' , Cornea , vol. 43 , no. 5 . https://doi.org/10.1097/ICO.0000000000003409Test
مصطلحات موضوعية: Astigmatism, Cornea, Corneal Dystrophies, Hereditary/diagnosis, Corneal Topography/methods, Humans, Tomography, Optical Coherence/methods
الوصف: PURPOSE: The aim of this study was to analyze corneal topography relative to astigmatism, higher order aberrations, and corneal curvatures in Terrien marginal degeneration using 3-dimensional anterior-segment optical coherence tomography. METHODS: Twenty-nine eyes of 15 Finnish patients from a tertiary referral center had topographic axial power maps classified into 4 patterns by visual grading: crab claw (CC), mixed (M), arcuate (A), and normal. Regular astigmatism, keratometry, higher order aberrations, maximal corneal thinning, apex thickness, and curvature changes relative to best fit sphere toward maximal peripheral thinning were compared. RESULTS: Four, 9, and 12 eyes were classified as CC, M, and A, respectively; 1 as normal with clinical disease; and 3 as normal with unilateral disease. Median follow-up was 2.3 (range, 0-7.2) years. Three eyes changed pattern. Patients with the CC pattern were the youngest when diagnosed, progressed more rapidly, exhibited cavities in superior quadrants with anterior bulging, and had greater higher order posterior aberrations. Patients with the M pattern were older, progressed slower, and showed superonasal asymmetric corneal steepening extending centrally, often with asymmetric bow tie. Patients with pattern A showed little progression and were the oldest when diagnosed, with maximal corneal thinning equally in all quadrants. According to the Wang classification, the median stage was 4, 2, and 2 in CC, M, and A patterns, respectively, whereas it was always 2 by the Süveges classification. CONCLUSIONS: Terrien marginal degeneration is characterized by distinct corneal topographic patterns that differ in tomographic features, suggesting existence of subtypes in addition to different stages of disease. Patients representing CC and M patterns might benefit from more frequent monitoring.
الإتاحة: https://doi.org/10.1097/ICO.0000000000003409Test
https://pure.au.dk/portal/en/publications/efff2dbd-0668-45ed-a03e-d7c7f20fa5c9Test -
5دورية أكاديمية
المؤلفون: Laßmann, Christian, Ilg, Winfried, Schneider, Marc, Völker, Maximilian, Haeufle, Daniel F B, Schüle, Rebecca, Giese, Martin, Synofzik, Matthis, Schöls, Ludger, Rattay, Tim
المصدر: Movement disorders 37(12), 2417-2426 (2022). doi:10.1002/mds.29199
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Spastic Paraplegia, Hereditary: diagnosis, Neurodegenerative Diseases, Paraplegia, Gait: physiology, Disease Progression, Spastin, SPG4, gait analysis, hereditary spastic paraplegia, motor biomarker, prodromal
جغرافية الموضوع: DE
الوصف: In hereditary spastic paraplegia type 4 (SPG4), subclinical gait changes might occur years before patients realize gait disturbances. The prodromal phase of neurodegenerative disease is of particular interest to halt disease progression by future interventions before impairment has manifested.The objective of this study was to identify specific movement abnormalities before the manifestation of gait impairment and quantify disease progression in the prodromal phase.Seventy subjects participated in gait assessment, including 30 prodromal SPAST pathogenic variant carriers, 17 patients with mild-to-moderate manifest SPG4, and 23 healthy control subjects. An infrared-camera-based motion capture system assessed gait to analyze features such as range of motion and continuous angle trajectories. Those features were correlated with disease severity as assessed by the Spastic Paraplegia Rating Scale, neurofilament light chain as a fluid biomarker indicating neurodegeneration, and motor-evoked potentials.Compared with healthy control subjects, we found an altered gait pattern in prodromal pathogenic variant carriers during the swing phase in the segmental angle of the foot (Dunn's post hoc test, q = 3.1) and heel ground clearance (q = 2.8). Furthermore, range of motion of segmental angle was reduced for the foot (q = 3.3). These changes occurred in prodromal pathogenic variant carriers without quantified leg spasticity in clinical examination. Gait features correlated with neurofilament light chain levels, central motor conduction times of motor-evoked potentials, and Spastic Paraplegia Rating Scale score.Gait analysis can quantify changes in prodromal and mild-to-moderate manifest SPG4 patients. Thus, gait features constitute promising motor biomarkers characterizing the subclinical progression of spastic gait and might help to evaluate interventions in early disease stages. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
العلاقة: info:eu-repo/semantics/altIdentifier/issn/0885-3185; info:eu-repo/semantics/altIdentifier/issn/1531-8257; info:eu-repo/semantics/altIdentifier/pmid/pmid:36054444; https://pub.dzne.de/record/165255Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01548%22Test
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6دورية أكاديمية
المؤلفون: Kessler, Christoph, Serna-Higuita, Lina Maria, Schöls, Ludger, Martus, Peter, Schüle, Rebecca, Wilke, Carlo, Rattay, Tim, Hengel, Holger, Reichbauer, Jennifer, Stransky, Elke, Leyva-Gutiérrez, Alejandra, Mengel, David, Synofzik, Matthis
المصدر: Annals of Clinical and Translational Neurology 9(3), 326 - 338 (2022). doi:10.1002/acn3.51518
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Biomarkers, Cross-Sectional Studies, Humans, Intermediate Filaments, Longitudinal Studies, Paraplegia, Spastic Paraplegia, Hereditary: diagnosis
جغرافية الموضوع: DE
الوصف: While the anticipated rise of disease-modifying therapies calls for reliable trial outcome parameters, fluid biomarkers are lacking in spastic paraplegia type 4 (SPG4), the most prevalent form of hereditary spastic paraplegia. We therefore investigated serum neurofilament light chain (sNfL) as a potential therapy response, diagnostic, monitoring, and prognostic biomarker in SPG4.We assessed sNfL levels in 93 patients with SPG4 and 60 healthy controls. The longitudinal study of sNfL levels in SPG4 patients covered a baseline, 1-year follow-up and 2-year follow-up visit.Levels of sNfL were significantly increased in patients with genetically confirmed SPG4 compared to healthy controls matched in age and sex (p = 0.013, r = 0.2). Our cross-sectional analysis revealed a greater difference in sNfL levels between patients and controls in younger ages with decreasing fold change of patient sNfL elevation at older ages. Over our observational period of 2 years, sNfL levels remained stable in SPG4 patients. Disease severity and progression did not correlate with sNfL levels.Our longitudinal data indicate a stable turnover of sNfL in manifest SPG4; therefore, sNfL levels are not suitable to monitor disease progression in SPG4. However, sNfL may be valuable as a therapy response biomarker, since its turnover could be modified by interventions. As the course of sNfL levels appears to be most dynamic around the onset of SPG4, the ability to detect a therapy response appears to be especially promising in younger patients, matching the need to initiate treatment in early disease stages.
العلاقة: info:eu-repo/semantics/altIdentifier/issn/2328-9503; info:eu-repo/semantics/altIdentifier/pmid/pmid:35171517; https://pub.dzne.de/record/163603Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00349%22Test
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7دورية أكاديمية
المؤلفون: Kehrer-Sawatzki, Hildegard, Cooper, David N.
المصدر: http://lobid.org/resources/99370671251406441Test#!, 141(2):177-191.
مصطلحات موضوعية: Infant, Newborn [MeSH], Neurofibromatosis 1/diagnosis [MeSH], Neurofibromatosis 1/genetics [MeSH], Female [MeSH], Neurofibromatosis 1/pathology [MeSH], Genes, Neurofibromatosis 1 [MeSH], Colorectal Neoplasms/diagnosis [MeSH], Humans [MeSH], Cafe-au-Lait Spots/diagnosis [MeSH], Molecular Medicine, Diagnosis, Differential [MeSH], Mosaicism [MeSH], Neoplastic Syndromes, Hereditary/diagnosis [MeSH], Infant [MeSH], Male [MeSH], Metabolic Diseases, Brain Neoplasms/diagnosis [MeSH], Gene Function, Review, Child [MeSH], Genetic Variation [MeSH], Child, Preschool [MeSH], Human Genetics
الوصف: Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as skin-fold freckling and Lisch nodules occur later during childhood whereas dermal neurofibromas are rare in young children and usually only arise during early adulthood. The NIH clinical diagnostic criteria for NF1, established in 1988, include the most common NF1-associated features. Since many of these features are age-dependent, arriving at a definitive diagnosis of NF1 by employing these criteria may not be possible in infancy if CALM are the only clinical feature evident. Indeed, approximately 46% of patients who are diagnosed with NF1 later in life do not meet the NIH diagnostic criteria by the age of 1 year. Further, the 1988 diagnostic criteria for NF1 are not specific enough to distinguish NF1 from other related disorders such as Legius syndrome. In this review, we outline the challenges faced in diagnosing NF1 in young children, and evaluate the utility of the recently revised (2021) diagnostic criteria for NF1, which include the presence of pathogenic variants in the NF1 gene and choroidal anomalies, for achieving an early and accurate diagnosis.
العلاقة: https://repository.publisso.de/resource/frl:6446820Test; https://doi.org/10.1007/s00439-021-02410-zTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807470Test/
الإتاحة: https://doi.org/10.1007/s00439-021-02410-zTest
https://repository.publisso.de/resource/frl:6446820Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807470Test/ -
8دورية أكاديمية
المؤلفون: Ripperger, Tim, Evans, D Gareth, Malkin, David, Kratz, Christian P
المصدر: Ripperger , T , Evans , D G , Malkin , D & Kratz , C P 2021 , ' Choose and stay on one out of two paths : distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer ' , Familial Cancer , vol. 20 , no. 4 , pp. 289-291 . https://doi.org/10.1007/s10689-021-00228-2Test
مصطلحات موضوعية: Genetic Predisposition to Disease, Genetic Testing, Humans, Neoplasms/diagnosis, Neoplastic Syndromes, Hereditary/diagnosis
الإتاحة: https://doi.org/10.1007/s10689-021-00228-2Test
https://research.manchester.ac.uk/en/publications/3dee1490-daf3-4ee5-bd92-61f5799dd680Test -
9دورية أكاديمية
المؤلفون: Waespe, N., Belle, F.N., Redmond, S., Schindera, C., Spycher, B.D., Rössler, J., Ansari, M., Kuehni, C.E.
المساهمون: Swiss Paediatric Oncology Group (SPOG), Ansari, M., Beck-Popovic, M., Bourquin, J.P., Brazzola, P., Greiner, J., Rössler, J., Scheinemann, K., Schilling, F., von der Weid, N.
المصدر: European journal of cancer, vol. 145, pp. 71-80
مصطلحات موضوعية: Adolescent, Age Factors, Antineoplastic Agents/adverse effects, Cancer Survivors, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation/adverse effects, Humans, Incidence, Infant, Newborn, Male, Neoplasms, Second Primary/diagnosis, Second Primary/epidemiology, Neoplastic Syndromes, Hereditary/diagnosis, Hereditary/epidemiology, Radiotherapy/adverse effects, Registries, Risk Assessment, Risk Factors, Switzerland/epidemiology, Young Adult, Adolescent medicine, Early detection of cancer, Genetic counselling, Genetic testing, Hereditary neoplastic syndromes
الوصف: Childhood cancer patients are at increased risk of second primary neoplasms (SPNs). We assessed incidence and risk factors for early SPNs with a focus on cancer predisposition syndromes (CPSs). This cohort study used data from the Swiss Childhood Cancer Registry. We included patients with first primary neoplasms (FPNs) diagnosed before age 21 years from 1986 to 2015 and identified SPNs occurring before age 21. We calculated standardised incidence ratios (SIRs) and absolute excess risks (AERs) using Swiss population cancer incidence data, and cumulative incidence of SPNs. We calculated hazard ratios (HRs) of risk factors for SPNs using Fine and Gray competing risk regression. Among 8074 childhood cancer patients, 304 (4%) were diagnosed with a CPS and 94 (1%) developed early SPNs. The incidence of SPNs was more than 10-fold higher in childhood cancer patients than the incidence of neoplasms in the general population (SIR = 10.6, 95% confidence interval [CI]: 8.7-13.1) and the AER was 179/100,000 person-years (CI: 139-219). Cumulative incidence of SPNs 20 years after FPN diagnosis was 23% in patients with CPSs (CI: 12-41%) and 2.7% in those without (CI: 2.0-3.6%). Risk factors for SPNs were CPSs (HR = 7.8, CI: 4.8-12.7), chemotherapy (HR = 2.2, CI: 1.1-4.6), radiotherapy (HR = 1.9, CI = 1.2-2.9), haematopoietic stem cell transplantation (HR = 1.8, CI: 1-3.3), and older age (15-20 years) at FPN diagnosis (HR = 1.9, CI: 1.1-3.2). CPSs are associated with a high risk of SPNs before age 21 years. Identification of CPSs is important for appropriate cancer surveillance and targeted screening.
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33423008; info:eu-repo/semantics/altIdentifier/eissn/1879-0852; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1ED8E884C0769; https://serval.unil.ch/notice/serval:BIB_1ED8E884C076Test; urn:issn:0959-8049; https://serval.unil.ch/resource/serval:BIB_1ED8E884C076.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1ED8E884C0769Test
الإتاحة: https://doi.org/10.1016/j.ejca.2020.11.042Test
https://serval.unil.ch/notice/serval:BIB_1ED8E884C076Test
https://serval.unil.ch/resource/serval:BIB_1ED8E884C076.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1ED8E884C0769Test -
10دورية أكاديمية
المؤلفون: Waespe, Nicolas, Belle, Fabiën, Redmond, Shelagh, Schindera, Christina, Spycher, Ben D, Rössler, Jochen, Ansari Djaberi, Marc Georges, Kuehni, Claudia E, the Swiss Paediatric Oncology Group (SPOG)
المصدر: ISSN: 0959-8049 ; European journal of cancer, vol. 145 (2021) p. 71-80.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Adolescent medicine, Cancer survivors, Early detection of cancer, Genetic counselling, Genetic testing, Hereditary neoplastic syndromes, Neoplasms, Pediatrics, Second primary neoplasms, Swiss childhood cancer registry, Adolescent, Age Factors, Antineoplastic Agents / adverse effects, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation / adverse effects, Humans, Incidence, Infant, Newborn, Male, Second Primary / diagnosis, Second Primary / epidemiology, Neoplastic Syndromes, Hereditary / diagnosis, Hereditary / epidemiology, Radiotherapy / adverse effects, Registries
الوصف: Background: Childhood cancer patients are at increased risk of second primary neoplasms (SPNs). We assessed incidence and risk factors for early SPNs with a focus on cancer predisposition syndromes (CPSs). Patients and methods: This cohort study used data from the Swiss Childhood Cancer Registry. We included patients with first primary neoplasms (FPNs) diagnosed before age 21 years from 1986 to 2015 and identified SPNs occurring before age 21. We calculated standardised incidence ratios (SIRs) and absolute excess risks (AERs) using Swiss population cancer incidence data, and cumulative incidence of SPNs. We calculated hazard ratios (HRs) of risk factors for SPNs using Fine and Gray competing risk regression. Results: Among 8074 childhood cancer patients, 304 (4%) were diagnosed with a CPS and 94 (1%) developed early SPNs. The incidence of SPNs was more than 10-fold higher in childhood cancer patients than the incidence of neoplasms in the general population (SIR = 10.6, 95% confidence interval [CI]: 8.7-13.1) and the AER was 179/100,000 person-years (CI: 139-219). Cumulative incidence of SPNs 20 years after FPN diagnosis was 23% in patients with CPSs (CI: 12-41%) and 2.7% in those without (CI: 2.0-3.6%). Risk factors for SPNs were CPSs (HR = 7.8, CI: 4.8-12.7), chemotherapy (HR = 2.2, CI: 1.1-4.6), radiotherapy (HR = 1.9, CI = 1.2-2.9), haematopoietic stem cell transplantation (HR = 1.8, CI: 1-3.3), and older age (15-20 years) at FPN diagnosis (HR = 1.9, CI: 1.1-3.2). Conclusion: CPSs are associated with a high risk of SPNs before age 21 years. Identification of CPSs is important for appropriate cancer surveillance and targeted screening.
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33423008; https://archive-ouverte.unige.ch/unige:156579Test; unige:156579
