Correlation between the number of segmental chromosome aberrations and the age at diagnosis of diploid neuroblastomas without MYCN amplification

Souzaki, Ryota; Tajiri, Tatsuro; Teshiba, Risa; Kinoshita, Yoshiaki; Yosue, Ryota; Kohashi, Kenichi; Oda, Yoshinao; Taguchi, Tomoaki

doi:10.1016/j.jpedsurg.2011.09.005

Cited by 5 publications

(4 citation statements)

References 14 publications

(13 reference statements)

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“…The incidence rates of 1p36 and 11q23 fragment deletions in neuroblastoma are approximately 23% to 35% and 30% to 40%, respectively 23 . Previous studies have also revealed that the incidence of 11q23 deletion increases in children older than 18 months, which was confirmed in our study, as the age of children with SCAs was significantly higher than that of children without SCAs, consistent with prior literature 24,25 …”

Section: Discussionsupporting

confidence: 91%

“…23 Previous studies have also revealed that the incidence of 11q23 deletion increases in children older than 18 months, which was confirmed in our study, as the age of children with SCAs was significantly higher than that of children without SCAs, consistent with prior literature. 24,25 In this study, we did not use P values to select radiomics features, and as a result, we did not use the Benjamini-Hochberg method for P value correction. Instead, in the process of selecting radiomics features, we exclusively used the variance threshold method, Spearman correlation analysis, and the LASSO method while omitting the use of the Mann-Whitney U test or Student t test.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Computed Tomography–Based Radiomics Signature for Predicting Segmental Chromosomal Aberrations at 1p36 and 11q23 in Pediatric Neuroblastoma

Wang,

Yu,

Ding

et al. 2023

J Comput Assist Tomogr

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Objective This study aimed to develop and assess the precision of a radiomics signature based on computed tomography imaging for predicting segmental chromosomal aberrations (SCAs) status at 1p36 and 11q23 in neuroblastoma. Methods Eighty-seven pediatric patients diagnosed with neuroblastoma and with confirmed genetic testing for SCAs status at 1p36 and 11q23 were enrolled and randomly stratified into a training set and a test set. Radiomics features were extracted from 3-phase computed tomography images and analyzed using various statistical methods. An optimal set of radiomics features was selected using a least absolute shrinkage and selection operator regression model to calculate the radiomics score for each patient. The radiomics signature was validated using receiver operating characteristic curves to obtain the area under the curve and 95% confidence interval (CI). Results Eight radiomics features were carefully selected and used to compute the radiomics score, which demonstrated a statistically significant distinction between the SCAs and non-SCAs groups in both sets. The radiomics signature achieved an area under the curve of 0.869 (95% CI, 0.788–0.943) and 0.883 (95% CI, 0.753–0.978) in the training and test sets, respectively. The accuracy of the radiomics signature was 0.817 and 0.778 in the training and test sets, respectively. The Hosmer-Lemeshow test confirmed that the radiomics signature was well calibrated. Conclusions Computed tomography–based radiomics signature has the potential to predict SCAs at 1p36 and 11q23 in neuroblastoma.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Computed Tomography–Based Radiomics Signature for Predicting Segmental Chromosomal Aberrations at 1p36 and 11q23 in Pediatric Neuroblastoma

Wang,

Yu,

Ding

et al. 2023

J Comput Assist Tomogr

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“…In 2011, Kryh and co-workers using a SNP array, found cnLOH as a frequent event in neuroblastoma cell lines (20). Souzaki et al reported in their SNP array study on a significantly higher number of SCAs in older patients and a possible correlation of the number of SCAs and outcome in diploid/tetraploid neuroblastomas without MNA, however no, information on LOH data was given (21). …”

Section: Introductionmentioning

confidence: 99%

Ultra-High Density SNParray in Neuroblastoma Molecular Diagnostics

et al. 2014

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Neuroblastoma serves as a paradigm for applying tumor genomic data for determining patient prognosis and thus for treatment allocation. MYCN status, i.e., amplified vs. non-amplified, was one of the very first biomarkers in oncology to discriminate aggressive from less aggressive or even favorable clinical courses of neuroblastoma. However, MYCN amplification is by far not the only genetic change associated with unfavorable clinical courses. So called “segmental chromosomal aberrations,” (SCAs) i.e., gains or losses of chromosomal fragments, can also indicate tumor aggressiveness. The clinical use of these genomic aberrations has, however, been hampered for many years by methodical and interpretational problems. Only after reaching worldwide consensus on markers, methodology, and data interpretation, information on SCAs has recently been implemented in clinical studies. Now, a number of collaborative studies within COG, GPOH, and SIOPEN use genomic information to stratify therapy for patients with localized and metastatic disease. Recently, new types of DNA based aberrations influencing the clinical behavior of neuroblastomas have been described. Deletions or mutations of genes like ATRX and a phenomenon referred to as “chromothripsis” are all assumed to correlate with an unfavorable clinical behavior. However, these genomic aberrations need to be scrutinized in larger studies applying the most appropriate techniques. Single nucleotide polymorphism arrays have proven successful in deciphering genomic aberrations of cancer cells; these techniques, however, are usually not applied in the daily routine. Here, we present an ultra-high density (UHD) SNParray technique which is, because of its high specificity and sensitivity and the combined copy number and allele information, highly appropriate for the genomic diagnosis of neuroblastoma and other malignancies.

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“…A study by Janoueix-Lerosey et al on 69 NBs collected in Paris concluded that 17q gain was associated with 1p36 deletion, MNA, and diploid or tetraploid chromosomal content [38]. Similarly, Souzaki et al observed the presence of 17q gain in almost 90% (8/9) of the MNA samples but only in 40% (18/45) of the non-MNA samples [39]. Two additional studies demonstrated that 17q gain was associated with MNA [40,41].…”

Section: Q's Associations With Other Genetic Modificationsmentioning

confidence: 95%

17q Gain in Neuroblastoma: A Review of Clinical and Biological Implications

Mlakar,

Dupanloup,

Gonzales

et al. 2024

Cancers

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Neuroblastoma (NB) is the most frequent extracranial solid childhood tumor. Despite advances in the understanding and treatment of this disease, the prognosis in cases of high-risk NB is still poor. 17q gain has been shown to be the most frequent genomic alteration in NB. However, the significance of this remains unclear because of its high frequency and association with other genetic modifications, particularly segmental chromosomal aberrations, 1p and 11q deletions, and MYCN amplification, all of which are also associated with a poor clinical prognosis. This work reviewed the evidence on the clinical and biological significance of 17q gain. It strongly supports the significance of 17q gain in the development of NB and its importance as a clinically relevant marker. However, it is crucial to distinguish between whole and partial chromosome 17q gains. The most important breakpoints appear to be at 17q12 and 17q21. The former distinguishes between whole and partial chromosome 17q gain; the latter is a site of IGF2BP1 and NME1 genes that appear to be the main oncogenes responsible for the functional effects of 17q gain.

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Correlation between the number of segmental chromosome aberrations and the age at diagnosis of diploid neuroblastomas without MYCN amplification

Cited by 5 publications

References 14 publications

Computed Tomography–Based Radiomics Signature for Predicting Segmental Chromosomal Aberrations at 1p36 and 11q23 in Pediatric Neuroblastoma

Computed Tomography–Based Radiomics Signature for Predicting Segmental Chromosomal Aberrations at 1p36 and 11q23 in Pediatric Neuroblastoma

Ultra-High Density SNParray in Neuroblastoma Molecular Diagnostics

17q Gain in Neuroblastoma: A Review of Clinical and Biological Implications

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