Parental Occupation and Risk of Childhood Retinoblastoma in Denmark

Omidakhsh, Negar; Hansen, Johnni; Ritz, Beate; Coleman, Anne L.; McKean‐Cowdin, Roberta; Olsen, Jørn; Heck, Julia E.

doi:10.1097/jom.0000000000002120

Cited by 6 publications

(1 citation statement)

References 63 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The literature search showed a significant relationship between the risky occupational groups (welding, metal industry, military service, machinists, jewelers, etc) in the family with germline RB1 gene mutation. [49] In our study, we have noted that ancestors of the 64.9% of the patients had risky occupational groups in their families, however no significant correlation with the RB1 mutation rate was noted.…”

Section: Discussionmentioning

confidence: 55%

RB1 gene mutations and genetic spectrum in retinoblastoma cases

Akdeniz Odemis,

Kebudi,

Bayramova

et al. 2023

Medicine

View full text Add to dashboard Cite

The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm. The bilateral/trilateral retinoblastoma rate was 66% in the study population. The general frequency of RB1 gene mutation in the germline of the patients with retinoblastoma was 41.9%. Approximately 51.5% of the patients were diagnosed earlier than 12 months old, and de novo mutation was found in 32.4% of the patients. Germline small genetic rearrangement mutations were detected in 78.9% of patients and LGRs were detected in 21.1% of patients. An association was detected between the eye color of the RB patients and RB1 mutations. 8 of the mutations detected in the RB1 gene were novel in the study.

show abstract

Section: Discussionmentioning

confidence: 55%

RB1 gene mutations and genetic spectrum in retinoblastoma cases

Akdeniz Odemis,

Kebudi,

Bayramova

et al. 2023

Medicine

View full text Add to dashboard Cite

show abstract

Survival and Health Care Burden of Children With Retinoblastoma in Europe

Virgili,

Capocaccia,

Botta

et al. 2024

JAMA Ophthalmol

View full text Add to dashboard Cite

ImportanceStudies on the epidemiology of retinoblastoma (RB) could lead to improvement in management.ObjectiveTo estimate the incidence and survival of RB in European children and the occurrence of second primary tumors (other than RB) in these patients.Design, Setting, and ParticipantsThis cohort study used population-based data from 81 cancer registries in 31 European countries adhering to the European Cancer Registries (EUROCARE-6) project. Data collection took place between January 2000 and December 2013. European children aged 0 to 14 years diagnosed with RB were included. Data were analyzed from May to November 2023.ExposuresDiagnosis of RB with International Classification of Diseases for Oncology, Third Edition (ICD-O-3), morphology coded 9510-9514 (retinoblastoma) and malignant behavior (fifth digit of morphology code, 3).Main Outcome and MeasuresAnnual incidence (per million children aged 0-14 years), 5-year survival (%), and the standardized incidence ratio (SIR) of subsequent malignant neoplasms.ResultsThe study included 3262 patients (mean [SD] age, 1.27 [1.63] years; 1706 [52%] male and 1556 [48%] female) from 81 registries. Of these, 3098 patients were considered in trend analysis after excluding registries with incomplete time coverage: 940 in 2000 to 2003, 703 in 2004 to 2006, 744 in 2007 to 2009, and 856 in 2010 to 2013. The estimated overall European incidence rate was 4.0 (95% CI, 3.9-4.1). Rates among countries varied from less than 2 million to greater than 6 million per year. No time trend of incidence was observed in any area. The overall European 5-year survival was 97.8% (95% CI, 95.5-98.9; 3180 cases). Five-year survival was lower in Estonia and Bulgaria (&lt;80%) and 100% in several countries. Twenty-five subsequent malignant neoplasms were recorded during follow-up (up to 14 years), with an SIR of 8.2 and with cases occurring at mean ages between 1.3 and 8.9 years across different sites. An increased risk was found for hematological tumors (SIR, 5) and bone and soft tissue sarcomas (SIR, 29).Conclusions and RelevanceThis study showed RB incidence remained stable at 4.0 per 1 000 000 European children aged 0 to 14 years from 2000 to 2013, but estimates varied among countries and differences in survival across countries persist. These data might be used to monitor RB management and occurrences of second tumors. The findings suggest future registry studies should aim to collect standardized RB stage at diagnosis and treatment to interpret disparities and potentially improve surveillance.

show abstract