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Recent Advances in Epidemiology of Childhood Cancer

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A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Epidemiology and Prevention".

Deadline for manuscript submissions: 31 December 2026 | Viewed by 4149

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Special Issue Editors

Prof. Dr. Rafael Peris-Bonet

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Guest Editor

Spanish Registry of Childhood Tumours (RETI-SEHOP), University of Valencia, Valencia, Spain
Interests: childhood cancer registries; childhood cancer epidemiology; survival of children with cancer

Dr. Rebeca Ramis

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Guest Editor

Department of Environmental Epidemiology and Cancer, National Center for Epidemiology, Carlos III Institute of Health, 28029 Madrid, Spain
Interests: childhood cancer etiology

Dr. Adela Cañete

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Guest Editor

Department of Pediatric, Obstetrics and Gynecology, University of Valencia, and Chief Paediatric Oncology Department, La Fe Hospital, Valencia, Spain
Interests: pediatric cancers; neuroblastoma; brain tumors; survival; incidence

Special Issue Information

Dear Colleagues,

Childhood cancer remains a major cause of death in children, and, while survival is high in developed countries, there are serious inequalities between regions and countries worldwide. There are geographical and ethnic variations in the incidences of different cancer types that remain unresolved, since most causes of childhood cancer are still unknown. Moreover, an increasing number of survivors live with health problems caused by the malignancy or the necessary therapy, leading to lifelong healthcare requirements in many cases.

Childhood cancer registries are still needed in a number of countries. In others, the quality of childhood cancer registration should be further enhanced.

This Special Issue will address all aspects of childhood cancer epidemiology. Possible topics include (but are not limited to) the improvement of childhood cancer registries and their output, research on the environmental causes of cancer in children, and the genetic and molecular epidemiology of childhood cancer. We invite submissions sharing applications of epidemiology in the evaluation of population-based healthcare results and the quality of life of survivors of childhood cancer, considering, when possible, the impact of social determinants and inequalities in access to care. Papers exploring improvements in the application of biostatistics to the area of rare tumours, developments in ethically acceptable record linkage, and appropriate artificial intelligence tools are also welcome.

We look forward to receiving your contributions.

Prof. Dr. Rafael Peris-Bonet
Dr. Rebeca Ramis
Dr. Adela Cañete
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

childhood cancer epidemiology
childhood cancer registries
environmental causes of childhood cancer
genetic epidemiology
molecular epidemiology
survival of children with cancer
quality of life
social determinants and inequalities
information technologies and statistical innovations

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Published Papers (5 papers)

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Research

12 pages, 229 KB

Open AccessArticle

Non-Ocular Cancers in Parents of Patients Diagnosed with Retinoblastoma in Britain 1949 to 1987

by Charles A. Stiller, Angela MacCarthy, Kathryn J. Bunch, Nicole L. Diggens, Gerald J. Draper and Michael F. G. Murphy

Cancers 2026, 18(9), 1399; https://doi.org/10.3390/cancers18091399 - 28 Apr 2026

Viewed by 253

Abstract

Background: Mutations in the retinoblastoma gene (RB1) are associated with risks of both retinoblastoma and other cancers. Parents of children with retinoblastoma can be categorised according to their likelihood of carrying a germline RB1 mutation. Some categories of such parents may have an increased risk of cancer. Methods: A cohort of 1180 parents of children with retinoblastoma were categorised according to the likelihood that they carried an RB1 mutation and followed up for cancer through national records. We calculated Standardised Incidence Ratios (SIRs) for all non-ocular cancers combined and for individual diagnostic groups, with expected numbers derived from national cancer registration rates. Finally, we pooled the all-cancers results from the present study with those from an earlier study of largely the same cohort with non-overlapping follow-up. Results: In total, 183 non-ocular cancers were identified among the parents. Parents who themselves had retinoblastoma had a significantly higher risk of non-ocular cancer than the general population: for fathers, the SIR was 3.56 (95% confidence interval (CI) 1.84–6.22); for mothers, it was 3.25 (1.49–6.18). For the very small group of parents known to be carrying a germline RB1 mutation but not affected by retinoblastoma, there was a lower and non-significant increase in risk (SIR = 1.9). Parents categorised as either possible carriers or probable non-carriers had similar observed risks to the general population. When the all-cancers results were pooled with those from an earlier study of very largely the same cohort with non-overlapping follow-up, the estimated lifetime SIR for non-ocular cancer among mutation-carrier parents after the birth of their affected child was 4.32 (95% CI 3.06–5.93). Conclusions: Our results confirm that parents who themselves had retinoblastoma have an increased risk of subsequent cancers, and parents who are not mutation carriers have a risk similar to the general population. Full article

(This article belongs to the Special Issue Recent Advances in Epidemiology of Childhood Cancer)

10 pages, 336 KB

Open AccessArticle

Neuroblastoma by Stage at Diagnosis and Other Prognostic Factors: The Results of the BENCHISTA Italian Project—A Population-Based Study

by Gemma Gatta, Riccardo Capocaccia, Massimo Conte, Marcella Sessa, Fabio Savoia, Carlotta Sacerdote, Walter Mazzucco, Rosalia Ragusa, Fabio Didonè, Laura Botta and BENCHISTA-Ita Working Group

Cancers 2026, 18(4), 613; https://doi.org/10.3390/cancers18040613 - 13 Feb 2026

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Abstract

Background: Neuroblastoma is the most common embryonal cancer. Since several population-based studies in Europe have revealed differences in 5-year survival across countries and regions. Objectives: We principally investigated the impact of stage at diagnosis on survival in Italy. Methods: Data were obtained from 26 population-based cancer registries (PBCRs), covering 319 cases (ages 0–14) diagnosed between 2013 and 2017, representing about 80% of the national population. Stage was classified according to the Toronto guidelines. Information on treatment and treating hospitals was also collected. Stage at diagnosis was further refined using probabilistic linkage with the Italian Neuroblastoma Registry (RINB). Results: Overall survival (OS), defined as all-cause mortality, was estimated using the Kaplan–Meier method. Most patients presented with stage M disease (37%), while a small proportion remained unclassified (2%). Three-year survival analysis showed significant differences between stages, ranging from >95% in localised (stage I) and MS stages to 78% in stage M (stage IV). No significant disparity across the Italian regions was observed in stage distribution or survival. Surgery and radiotherapy treatments of neuroblastoma were mostly centralized in the Centre and North of Italy. However, the cross-regional health migration from the South was limited to, and interpreted as appropriate for, high-volume centres. Conclusions: This population-based study highlights the high quality of care provided to children with neuroblastoma by an effective national clinical network. Compared with previous studies, we observed very limited variation across regions. A national childhood cancer registry remains essential to obtain a comprehensive picture of the country. Full article

(This article belongs to the Special Issue Recent Advances in Epidemiology of Childhood Cancer)

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27 pages, 3227 KB

Open AccessArticle

Spanish Paediatric Haematology and Oncology Survival Results and Trends, 1999–2022

by Pau Alfonso-Comos, Álvaro Briz-Redón, José Luis Dapena Díaz, Susana Rives, José María Fernández Navarro, Jaime Verdú-Amorós, Adela Cañete and RETI-SEHOP Survival Working Group

Cancers 2026, 18(3), 362; https://doi.org/10.3390/cancers18030362 - 23 Jan 2026

Viewed by 692

Abstract

Background: Childhood cancer is the leading cause of natural death among children in high-income countries, despite treatment improvements. The Spanish Registry of Childhood Tumours (RETI-SEHOP) systematically records all cases treated within the network of SEHOP units. Using RETI-SEHOP data, we evaluated survival trends to assess progress in patient care, both overall and by tumour. Methods: A total of 20,534 childhood cancer cases (0–14 years) were recorded across the period 1999–2021. The 1-, 3-, and 5-year overall survival (OS) were estimated using the Kaplan–Meier method, applying the cohort approach for 1999–2018 and the period approach for 2019–2022. OS by age and sex was analysed in the recent 2009–2018 incidence cohort. Age-adjusted OS time trends were examined using joinpoint Cox models for 1999–2022. Results: For all tumours combined, 5-year OS increased from 75.4% to 84.6% between 1999–2003 and 2019–2022. While positive trends were identified for all haematological malignancies examined, a more varied scenario was evident for solid tumours, as ependymomas improved fastest (1.51 points annually), and sarcomas, except for rhabdomyosarcoma, remained stagnant. Conclusions: Our results reflect a period characterised by a combination of new therapeutic developments, improved diagnostics, and more refined risk stratification, which has ultimately led to a reduction in disease-related mortality. Full article

(This article belongs to the Special Issue Recent Advances in Epidemiology of Childhood Cancer)

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12 pages, 1767 KB

Open AccessArticle

Improving the Connection Between Population-Based and National Clinical Pediatric Cancer Registries—A Pilot Study on Neuroblastoma: The Italian BENCHISTA-Ita Project

by Fabio Didonè, Andrea Tittarelli, Claudio Tresoldi, Paolo Contiero, Riccardo Capocaccia, Riccardo Haupt, Martina Fragola, Marcella Sessa, Fabio Savoia, Carlotta Sacerdote, Massimo Conte, Gemma Gatta, Laura Botta and BENCHISTA-Ita Working Group

Cancers 2025, 17(24), 3894; https://doi.org/10.3390/cancers17243894 - 5 Dec 2025

Cited by 1 | Viewed by 567

Abstract

Background: Childhood cancers (CC) are rare and treatable; however, survival rates vary across Europe, with poorer outcomes in Eastern countries. Stage at diagnosis is one of the major prognostic factors. The BENCHISTA-Ita project aims to promote the use of the Toronto Guidelines by population-based cancer registries (PBCR) to standardize stage at diagnosis data collection. In Italy, regional cancer registries ensure data quality, while national clinical registries centralize pediatric cancer data. The aim of the study is to promote the linkage between PBCRs and national clinical registries to enhance data completeness. This study presents the results of linking BENCHISTA-Ita neuroblastoma cases with the Italian Neuroblastoma Registry (RINB) as a pilot study. Methods: The linkage process involved probabilistic matching using R software, considering variables such as sex, year of birth, and residence at diagnosis. The study included 294 neuroblastoma cases from BENCHISTA-Ita and 578 from RINB, diagnosed between 2013 and 2017. Results: Results showed that 272 of 294 BENCHISTA-Ita cases matched with RINB cases, improving the completeness of clinical variables such as stage at diagnosis, N-Myc amplification, and relapse/progression. The linkage increased the completeness of clinical variables in PBCR, such as stage at diagnosis from 81% to 99%, N-Myc from 47% to 86%, and relapse/progression from 68% to 98%. Additionally, the linkage improved RINB’s follow-up completeness from 59% to 97% and added new cases in both PBCR and RINB. Conclusions: This linkage demonstrates the potential to enrich both databases, improving data quality and harmonization of cancer indicators. The study highlights the importance of collaboration between PBCRs and clinical registries to ensure comprehensive data collection and enhance more informative population-based studies. Future efforts will focus on expanding the linkage to other national clinical registries. Full article

(This article belongs to the Special Issue Recent Advances in Epidemiology of Childhood Cancer)

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17 pages, 761 KB

Open AccessArticle

Population-Based Survival of Childhood and Adolescent Cancers (0–19 Years) in Madrid: Analysis by Sex, Age, Tumour Type, and Stage

by Raquel López-González, David Parra-Blázquez, Daniel Moñino, Candela Pino-Rosón, Clotilde Sevilla-Hernández, Marina Pollán and Nuria Aragonés

Cancers 2025, 17(19), 3113; https://doi.org/10.3390/cancers17193113 - 24 Sep 2025

Cited by 1 | Viewed by 1387

Abstract

Background/Objectives: In Europe, over 80% of children diagnosed with cancer survive at least 5 years. To improve cancer monitoring, the Paediatric Population-Based Cancer Registry (PCRM) was established in the Community of Madrid. This study aimed to describe population-based 1-, 3- and 5-year survival for children and adolescents diagnosed with cancer, by sex, age, tumour type and stage at diagnosis. Methods: Data were extracted from the PCRM, which reviews all cases identified through integrated primary care, hospital discharge, and mortality data, using electronic medical records. Patients aged 0–19 diagnosed with primary malignant cancer between 2015 and 2018 were included, with follow-up for vital status through October 2024. Stage was classified using the 2014 Toronto Childhood Cancer Staging Guidelines (tier 2). Kaplan–Meier methods were used to estimate survival, and log-rank tests assessed group differences. Cox regression was used to quantify the effect of localized vs. advanced disease. Results: The analysis included 862 patients. Most frequent cancers were leukaemia (24.1%), lymphomas (22.2%) and central nervous system (CNS) tumours (12.6%). Stage was assigned to 88.4% tumours. Overall survival was 93.6% in 1 year and 85.9% in 5 years. Five-year survival was 83.7% for leukaemia, 97.4% for lymphomas, 66.1% for CNS tumours; 85.8% in boys vs. 85.9% in girls (p = 0.908); 85.2% in children aged 0–14 years vs. 87.8% in adolescents aged 15–19 years (p = 0.314); and 69.9% for advanced vs. 89.7% for early-stage (p < 0.001), with a 3.3-fold higher mortality risk. Conclusions: This population-based study offers promising survival estimates reaching 86% globally at 5 years while revealing differences by cancer type and stage. It also highlights the Toronto Guidelines as a valuable tool for standardizing cancer registry methods and providing useful epidemiological indicators. Full article

(This article belongs to the Special Issue Recent Advances in Epidemiology of Childhood Cancer)

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