2017
DOI: 10.1177/1093526617698603
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Advancing Clinicopathologic Diagnosis of High-risk Neuroblastoma Using Computerized Image Analysis and Proteomic Profiling

Abstract: A subset of patients with neuroblastoma are at extremely high risk for treatment failure, though they are not identifiable at diagnosis and therefore have the highest mortality with conventional treatment approaches. Despite tremendous understanding of clinical and biological features that correlate with prognosis, neuroblastoma at ultra-high risk for treatment failure remains a diagnostic challenge. As a first step towards improving prognostic risk stratification within the high-risk group of patients, we det… Show more

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Cited by 5 publications
(2 citation statements)
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“…Heterogeneity with respect to targetable and prognostic mutations is a prominent challenge facing personalized cancer therapy, as targetable mutations identified from a single biopsy may not reflect the landscape of mutations that may be present throughout a single tumor, multiple tumor foci, and sites of metastasis . In neuroblastoma, a single section of tumor can often be considered representative of the tumor as a whole, but our current results highlight significant genetic heterogeneity among distinct tumor foci in PHOX2B ‐driven disease. Similar heterogeneity has been demonstrated with respect to MYCN amplification in metastatic neuroblastoma, as presence or absence of MYCN amplification can vary between the primary tumor and bone marrow .…”
Section: Discussionmentioning
confidence: 77%
See 1 more Smart Citation
“…Heterogeneity with respect to targetable and prognostic mutations is a prominent challenge facing personalized cancer therapy, as targetable mutations identified from a single biopsy may not reflect the landscape of mutations that may be present throughout a single tumor, multiple tumor foci, and sites of metastasis . In neuroblastoma, a single section of tumor can often be considered representative of the tumor as a whole, but our current results highlight significant genetic heterogeneity among distinct tumor foci in PHOX2B ‐driven disease. Similar heterogeneity has been demonstrated with respect to MYCN amplification in metastatic neuroblastoma, as presence or absence of MYCN amplification can vary between the primary tumor and bone marrow .…”
Section: Discussionmentioning
confidence: 77%
“…Loss of NF1 eliminates this negative feedback and promotes tumorigenesis, and deletions of NF1 have been described in neuroblastoma tumors and cell lines . Whether loss of NF1 directly facilitates tumorigenesis or affects age of disease onset is unknown, but low NF1 expression levels in neuroblastoma tumors correlate with decreased survival and RAS/MAPK activation, which could be a consequence of loss of NF1 , has been reported in relapsed neuroblastoma . No tumor sample for which the coordinates of 17q gain were available harbored an unbalanced gain of the region of that contains the NF1 gene, suggesting that 17q gain did not restore the tumor suppressive function of NF1 .…”
Section: Discussionmentioning
confidence: 99%