scholarly journals Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire

2021 ◽  
Author(s):  
Miriam Schwermer ◽  
Astrid Behnert ◽  
Beate Dörgeloh ◽  
Tim Ripperger ◽  
Christian P. Kratz
Keyword(s):  
Medical School ◽  
Comparative Effectiveness Research ◽  
Comparative Effectiveness ◽  
Cancer Predisposition ◽  
Effectiveness Research ◽  
Newly Diagnosed ◽  
Children With Cancer ◽  
Hannover Medical School ◽  
Cancer Predisposition Syndrome ◽  
Time Periods

AbstractApproximately 10% of children with newly diagnosed cancer have a cancer predisposition syndrome (CPS). The optimal diagnostic approach to identify them among children diagnosed with cancer is unknown. Objective: To determine whether the use of a one-page questionnaire can improve the CPS diagnosis among children with an oncologic condition. Design: Comparative effectiveness research. Setting: Referral center for children with cancer. Results: 739 children diagnosed with an oncologic condition between 2012 and 2019. All children with a newly diagnosed oncologic condition presenting to Hannover Medical School between January 1st 2017 and December 31st 2019 were prospectively evaluated with a CPS questionnaire. Children in whom the questionnaire suggested the need of a genetic workup were further evaluated. All children diagnosed with an oncologic condition between January 1st 2012 and December 31st 2016 served as control. The CPS diagnoses established during both time periods were evaluated and compared. A CPS was diagnosed in 27 out of 287 children (9.4%) during the questionnaire period versus 24 out of 452 children (5.3%) during the control period (P = 0.032). Conclusion: The CPS questionnaire appears to significantly improve the diagnosis of children with CPS among children with a newly diagnosed oncologic condition.

scholarly journals Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

2021 ◽  
Author(s):  
Anna Byrjalsen ◽  
Illja J. Diets ◽  
Jette Bakhuizen ◽  
Thomas van Overeem Hansen ◽  
Kjeld Schmiegelow ◽  
...  
Keyword(s):  
Childhood Cancer ◽  
Pediatric Cancer ◽  
Causal Relation ◽  
Evaluation Criteria ◽  
Cancer Predisposition ◽  
Gene Panel ◽  
Childhood Onset ◽  
Children With Cancer ◽  
Cancer Predisposition Syndrome ◽  
A Prospective Study

AbstractIncreasing use of genomic sequencing enables standardized screening of all childhood cancer predisposition syndromes (CPS) in children with cancer. Gene panels currently used often include adult-onset CPS genes and genes without substantial evidence linking them to cancer predisposition. We have developed criteria to select genes relevant for childhood-onset CPS and assembled a gene panel for use in children with cancer. We applied our criteria to 381 candidate genes, which were selected through two in-house panels (n = 338), a literature search (n = 39), and by assessing two Genomics England’s PanelApp panels (n = 4). We developed evaluation criteria that determined a gene’s eligibility for inclusion on a childhood-onset CPS gene panel. These criteria assessed (1) relevance in childhood cancer by a minimum of five childhood cancer patients reported carrying a pathogenic variant in the gene and (2) evidence supporting a causal relation between variants in this gene and cancer development. 138 genes fulfilled the criteria. In this study we have developed criteria to compile a childhood cancer predisposition gene panel which might ultimately be used in a clinical setting, regardless of the specific type of childhood cancer. This panel will be evaluated in a prospective study. The panel is available on (pediatric-cancer-predisposition-genepanel.nl) and will be regularly updated.

scholarly journals Publication of Tumor Marker Research Results: The Necessity for Complete and Transparent Reporting

2012 ◽  
Vol 30 (34) ◽  
pp. 4223-4232 ◽  
Author(s):  
Lisa M. McShane ◽  
Daniel F. Hayes
Keyword(s):  
Tumor Marker ◽  
Tumor Markers ◽  
Comparative Effectiveness Research ◽  
Comparative Effectiveness ◽  
Clinical Utility ◽  
The Body ◽  
Selective Reporting ◽  
Effectiveness Research ◽  
Study Quality ◽  
Transparent Reporting

Clinical management decisions for patients with cancer are increasingly being guided by prognostic and predictive markers. Use of these markers should be based on a sufficiently comprehensive body of unbiased evidence to establish that benefits to patients outweigh harms and to justify expenditure of health care dollars. Careful assessments of the clinical utility of markers by using comparative effectiveness research methods are urgently needed to more rigorously summarize and evaluate the evidence, but multiple factors have made such assessments difficult. The literature on tumor markers is plagued by nonpublication bias, selective reporting, and incomplete reporting. Several measures to address these problems are discussed, including development of a tumor marker study registry, greater attention to assay analytic performance and specimen quality, use of more rigorous study designs and analysis plans to establish clinical utility, and adherence to higher standards for reporting tumor marker studies. More complete and transparent reporting by adhering to criteria such as BRISQ [Biospecimen Reporting for Improved Study Quality] criteria for reporting details about specimens and REMARK [Reporting Recommendations for Tumor Marker Prognostic Studies] criteria for reporting a multitude of aspects relating to study design, analysis, and results, is essential for reliable assessment of study quality, detection of potential biases, and proper interpretation of study findings. Adopting these measures will improve the quality of the body of evidence available for comparative effectiveness research and enhance the ability to establish the clinical utility of prognostic and predictive tumor markers.

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