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Clinical Features of Children with Retinoblastoma and Neuroblastoma.

ABSTRACT: Purpose:Retinoblastoma and neuroblastoma are the most common malignant extracranial solid tumors in children. This study aimed to summarize the clinical features, especially the delayed diagnosis in children with retinoblastoma and neuroblastoma. Methods:In a single hospital-based case-control study, a retrospective cohort of 175 children with retinoblastoma and neuroblastoma diagnosed from January 2016 to January 2018 were reviewed. The state of enucleation in retinoblastomas and pathological prognosis in neuroblastomas were outcome indicators. Hereby, the patients were divided into two groups, and clinical features including age at presentation and delayed diagnosis were compared. Results:A total of 112 patients with retinoblastoma and 63 with neuroblastoma were included. In the retinoblastoma cohort, the median age at presentation was 17.2 months (0.3-110 months). The mean delay of diagnosis was 1.6?±?2.3 months, and the rate of enucleation was 61.6%. Unilateral disease, the International Classification of Intraocular Retinoblastoma (IIRC) stage E, and delay of diagnosis over 2.5 months were independent risk factors of ocular outcomes. Notably, the risk of enucleation was increased by 474% when the delay was longer than 2.5 months. In the neuroblastoma cohort, the delay of diagnosis of the unfavorable histology (UH) group was longer than that of the favorable histology (FH) group (1.9 months vs. 1.4 months, P=.487). The levels of serum ferritin and neuron-specific enolase were higher in the UH group than in the FH group (P < .05). Conclusions:This study summarized the clinical features and diagnosis biomarkers of retinoblastoma and neuroblastoma patients in China. These results might help to focus on early detection and treatment in children with retinoblastoma and neuroblastoma.

SUBMITTER: Fang X

PROVIDER: S-EPMC7368926 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Clinical Features of Children with Retinoblastoma and Neuroblastoma.

Fang Xiaolian X Wang Huanmin H Ma Xiaoli X Guo Yongli Y Yang Wei W Hu Shoulong S Qiu Yue Y Zhao Junyang J Ni Xin X

Journal of ophthalmology 20200710

<h4>Purpose</h4>Retinoblastoma and neuroblastoma are the most common malignant extracranial solid tumors in children. This study aimed to summarize the clinical features, especially the delayed diagnosis in children with retinoblastoma and neuroblastoma.<h4>Methods</h4>In a single hospital-based case-control study, a retrospective cohort of 175 children with retinoblastoma and neuroblastoma diagnosed from January 2016 to January 2018 were reviewed. The state of enucleation in retinoblastomas and ...[more]

PMID: 32695501

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Project description:BACKGROUND:Neuroblastoma is one of the most common types of pediatric cancer. In current neuroblastoma prognosis, patients can be stratified into high- and low-risk groups. Generally, more than 90% of the patients in the low-risk group will survive, while less than 50% for those with the high-risk disease will survive. Since the so-called "high-risk" patients still contain patients with mixed good and poor outcomes, more refined stratification needs to be established so that for the patients with poor outcome, they can receive prompt and individualized treatment to improve their long-term survival rate, while the patients with good outcome can avoid unnecessary over treatment. METHODS:We first mined co-expressed gene modules from microarray and RNA-seq data of neuroblastoma samples using the weighted network mining algorithm lmQCM, and summarize the resulted modules into eigengenes. Then patient similarity weight matrix was constructed with module eigengenes using two different approaches. At the last step, a consensus clustering method called Molecular Regularized Consensus Patient Stratification (MRCPS) was applied to aggregate both clinical information (clinical stage and clinical risk level) and multiple eigengene data for refined patient stratification. RESULTS:The integrative method MRCPS demonstrated superior performance to clinical staging or transcriptomic features alone for the NB cohort stratification. It successfully identified the worst prognosis group from the clinical high-risk group, with less than 40% survived in the first 50?months of diagnosis. It also identified highly differentially expressed genes between best prognosis group and worst prognosis group, which can be potential gene biomarkers for clinical testing. CONCLUSIONS:To address the need for better prognosis and facilitate personalized treatment on neuroblastoma, we modified the recently developed bioinformatics workflow MRCPS for refined patient prognosis. It integrates clinical information and molecular features such as gene co-expression for prognosis. This clustering workflow is flexible, allowing the integration of both categorical and numerical data. The results demonstrate the power of survival prognosis with this integrative analysis workflow, with superior prognostic performance to only using transcriptomic data or clinical staging/risk information alone. REVIEWERS:This article was reviewed by Lan Hu, Haibo Liu, Julie Zhu and Aleksandra Gruca.

Project description:Retinoblastoma (Rb) is a primary intraocular malignant tumor that occurs primarily in children, and results from loss-of-function mutations in the RB transcriptional corepressor 1 (RB1) gene. Genetic testing forms the basis of genetic counseling for affected families, as well as for clinical management of this disease. The aim of this study was to identify germline RB1 mutations and correlate the identified mutations with the clinical features of Rb patients. Genomic DNA was isolated from peripheral blood of 180 unrelated Rb patients and their parents (118 unilaterally and 62 bilaterally affected probands). Mutations in the RB1 gene, including the promoter region and exons 1-27 with ﬂanking intronic sequences, were identified by Sanger sequencing. The samples with negative sequencing results were further subjected to methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) to detect gross deletions or duplications. Sixty-three distinct mutations were identified in 75 of the 180 (41.7%) probands. Of the 75 patients carrying RB1 mutations, 56 developed bilateral Rb, while 19 developed unilateral Rb. The total detection rates for bilateral and unilateral Rb were 90.3% (56/62) and 16.1% (19/118), respectively. Among the 75 patients, the spectrum of mutation types comprised 29.3% (22/75) nonsense mutations, 22.7% (17/75) splicing mutations, 17.3% (13/75) small insertions/deletions, 16.0% (12/75) large deletions/duplications, and 13.3% (10/75) missense mutations, while only 1% (1/75) of the mutations were in the promoter region of the RB1 gene. Age at diagnosis was significantly different (p < 0.01) between patients with positive and negative test results for germline RB1 mutations. A c.2359C > T mutation (p.R787X) was identified in identical twins, but one child was affected bilaterally and the other unilaterally. Of the five patients with deletion of the entire RB1 gene, the deletion of two patients was inherited from unaffected parents. In conclusion, in this study, we provide a comprehensive spectrum of RB1 germline mutations in Chinese Rb patients, and describe the correlations among RB1 mutations, age at diagnosis, and laterality; moreover, we report that the clinical features of individuals carrying an identical mutation in the RB1 gene were highly variable, indicating that the pathogenesis of Rb is more complicated than currently believed.

Project description:BackgroundDiagnosing bacterial meningitis is essential to optimise the type and duration of antimicrobial therapy to limit mortality and sequelae. In sub-Saharan Africa, many public hospitals lack laboratory capacity, relying on clinical features to empirically treat or not treat meningitis. We investigated whether clinical features of bacterial meningitis identified prior to the introduction of conjugate vaccines still discriminate meningitis in children aged ≥60 days.MethodsWe conducted a retrospective cohort study to validate seven clinical features identified in 2002 (KCH-2002): bulging fontanel, neck stiffness, cyanosis, seizures outside the febrile convulsion age range, focal seizures, impaired consciousness, or fever without malaria parasitaemia and Integrated Management of Childhood Illness (IMCI) signs: neck stiffness, lethargy, impaired consciousness or seizures, and assessed at admission in discriminating bacterial meningitis after the introduction of conjugate vaccines. Children aged ≥60 days hospitalised between 2012 and 2016 at Kilifi County Hospital were included in this analysis. Meningitis was defined as positive cerebrospinal fluid (CSF) culture, organism observed on CSF microscopy, positive CSF antigen test, leukocytes ≥50/μL, or CSF to blood glucose ratio <0.1.ResultsAmong 12,837 admissions, 98 (0.8%) had meningitis. The presence of KCH-2002 signs had a sensitivity of 86% (95% CI 77-92) and specificity of 38% (95% CI 37-38). Exclusion of 'fever without malaria parasitaemia' reduced sensitivity to 58% (95% CI 48-68) and increased specificity to 80% (95% CI 79-80). IMCI signs had a sensitivity of 80% (95% CI 70-87) and specificity of 62% (95% CI 61-63).ConclusionsA lower prevalence of bacterial meningitis and less typical signs than in 2002 meant the lower performance of KCH-2002 signs. Clinicians and policymakers should be aware of the number of lumbar punctures (LPs) or empirical treatments needed for each case of meningitis. Establishing basic capacity for CSF analysis is essential to exclude bacterial meningitis in children with potential signs.

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Clinical Features of Children with Retinoblastoma and Neuroblastoma.

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Clinical Features of Children with Retinoblastoma and Neuroblastoma.

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