Childhood Cancer and Pediatric Cancer Predisposition Syndromes

2015 ◽  
pp. 975-1004
Author(s):  
Stefan K. Zöllner ◽  
Jeffrey A. Toretsky
2021 ◽  
Author(s):  
Anna Byrjalsen ◽  
Illja J. Diets ◽  
Jette Bakhuizen ◽  
Thomas van Overeem Hansen ◽  
Kjeld Schmiegelow ◽  
...  

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.


2019 ◽  
Vol 20 (1) ◽  
pp. 241-263 ◽  
Author(s):  
Sharon E. Plon ◽  
Philip J. Lupo

Developments over the past five years have significantly advanced our ability to use genome-scale analyses—including high-density genotyping, transcriptome sequencing, exome sequencing, and genome sequencing—to identify the genetic basis of childhood cancer. This article reviews several key results from an expanding number of genomic studies of pediatric cancer: ( a) Histopathologic subtypes of cancers can be associated with a high incidence of germline predisposition, ( b) neurodevelopmental disorders or highly penetrant cancer predisposition syndromes can result from specific patterns of variation in genes encoding the SMARC family of chromatin remodelers, ( c) genome-wide association studies with relatively small pediatric cancer cohorts have successfully identified single-nucleotide polymorphisms with large effect sizes and provided insight into population differences in cancer risk, and ( d) multiple exome or genome analyses of unselected childhood cancer cohorts have yielded a 7–10% incidence of pathogenic variants in cancer predisposition genes. This work supports the increasing use of genomic sequencing in the care of pediatric cancer patients and at-risk family members.


Author(s):  
Mona L. Peikert ◽  
Laura Inhestern ◽  
Konstantin A. Krauth ◽  
Gabriele Escherich ◽  
Stefan Rutkowski ◽  
...  

Abstract Purpose Recent research demonstrated that fear of progression (FoP) is a major burden for adult cancer survivors. However, knowledge on FoP in parents of childhood cancer survivors is scarce. This study aimed to determine the proportion of parents who show dysfunctional levels of FoP, to investigate gender differences, and to examine factors associated with FoP in mothers and fathers. Methods Five hundred sixteen parents of pediatric cancer survivors (aged 0–17 years at diagnosis of leukemia or central nervous system (CNS) tumor) were consecutively recruited after the end of intensive cancer treatment. We conducted hierarchical multiple regression analyses for mothers and fathers and integrated parent-, patient-, and family-related factors in the models. Results Significantly more mothers (54%) than fathers (41%) suffered from dysfunctional levels of FoP. Maternal FoP was significantly associated with depression, a medical coping style, a child diagnosed with a CNS tumor in comparison to leukemia, and lower family functioning (adjusted R2 = .30, p < .001). Paternal FoP was significantly associated with a lower level of education, depression, a family coping style, a child diagnosed with a CNS tumor in comparison to leukemia, and fewer siblings (adjusted R2 = .48, p < .001). Conclusions FoP represents a great burden for parents of pediatric cancer survivors. We identified associated factors of parental FoP. Some of these factors can be targeted by health care professionals within psychosocial interventions and others can provide an indication for an increased risk for higher levels of FoP. Implications for Cancer Survivors Psychosocial support targeting FoP in parents of childhood cancer survivors is highly indicated.


2021 ◽  
Vol 9 ◽  
Author(s):  
Angela Mastronuzzi ◽  
Luigi Boccuto ◽  
Riccardo Masetti

2019 ◽  
Vol 59 (4) ◽  
pp. 188-94
Author(s):  
Sri Mulatsih ◽  
Adnina Hariningrum ◽  
Ignatius Purwanto ◽  
Rizki Oktasari

Background A hospital-based cancer registry can be used as a guide to decision-making. Considering the limited cancer registry data in the population, the Yogyakarta Pediatric Cancer Registry (YPCR) is one of the pioneers of hospital-based pediatric cancer registries in Indonesia. The YPCR was started in 2000 in Dr. Sardjito Hospital. Objective To describe the characteristics of childhood cancer and the outcomes by analyzing overall survival (OS) and event-free survival (EFS) based on data from Yogyakarta Pediatric Cancer Registry. Methods Data were collected from the YPCR for the period of 2000 to 2016. Childhood cancers were classified into 12 groups based on the 3rd edition International Classification for Childhood Cancer (ICCC). Incidence, frequency, and distribution of cases were grouped by sex, age, and patients’ place of residence. Incidence was further analyzed using SPSS software. Kaplan-Meier test was used to analyze OS and EFS. Results Within the study period, 2,441 children aged 0-18 years were diagnosed with cancer. The highest incidence was found in the 1-5-year age group. The most common diagnoses found were leukemia, myeloproliferative disorders, and myelodysplastic disease (58%); lymphoma and reticuloendothelial neoplasm (8%); retinoblastoma (6%); soft tissue and other extra-osseous sarcomas (5%); as well as neuroblastoma and other peripheral nervous cell tumors (5%). The OSs of acute lymphoblastic leukemia (ALL), high risk ALL (HR-ALL), and standard risk (SR-ALL) were 31.8%, 18.5%, and 43.9%, respectively. The EFSs of ALL, HR-ALL, and SR-ALL were 23.9%, 14.7%, and 32.4%, respectively. For solid tumors, the OS was 13.7% and EFS was 6.4%. Conclusion The number of new cases of childhood cancer has increased in the last few years. The Yogyakarta Pediatric Cancer Registry (YPCR), which serves as a hospital-based pediatric cancer registry, has an important role to evaluate clinical and non-clinical aspects of childhood cancer.


2020 ◽  
Vol 41 (09) ◽  
pp. 629-629
Author(s):  
Javier S. Morales ◽  
Pedro L. Valenzuela ◽  
Alba M. Herrera-Olivares ◽  
Antonio Baño-Rodrigo ◽  
Adrián Castillo-García ◽  
...  

Dear EditorWe sincerely appreciate the nice comments by Drs. P.V. da Costa Ghignatti and R. Pereira de Lima 1 concerning our recent meta-analysis assessing the effects of physical exercise interventions on cardiovascular endpoints in childhood cancer survivors 2. They are quite right to remain that even non-significant improvements in cardiorespiratory fitness (CRF) might be clinically relevant. Indeed, we still do not know if CRF increments of a theoretically low magnitude (i. e., <1 metabolic equivalent) might have a prognostic value in the context of pediatric cancer and treatment-associated cardiotoxicity. We also agree that unsupervised exercise interventions are unlikely to be as effective as tailored programs, especially because the latter allow for intensity to being adequately controlled and thus gradually increased. It is indeed our opinion, after long years of experience working with children with cancer as well as with other debilitated clinical populations, that there is always room for physiological improvement and ideally loads should be gradually improved instead of remaining stable.


2018 ◽  
Vol 47 (5) ◽  
pp. e204-e216 ◽  
Author(s):  
Stephanie A. Coury ◽  
Katherine A. Schneider ◽  
Jaclyn Schienda ◽  
Wen-Hann Tan

Sign in / Sign up

Export Citation Format

Share Document