Publications by authors named "Mark Barszczyk"

Objective: Preoperative detection of axillary lymph node metastases (ALNMs) from breast cancer is suboptimal; however, recent work suggests radiomics may improve detection of ALNMs. This study aims to develop a 3D CT radiomics model to improve detection of ALNMs compared to conventional imaging features in patients with locally advanced breast cancer.

Methods: Retrospective chart review was performed on patients referred to a specialty breast cancer center between 2015 and 2020 with US-guided biopsy-proven ALNMs and pretreatment chest CT.

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We recently reported that atypical teratoid rhabdoid tumors (ATRTs) comprise at least two transcriptional subtypes with different clinical outcomes; however, the mechanisms underlying therapeutic heterogeneity remained unclear. In this study, we analyzed 191 primary ATRTs and 10 ATRT cell lines to define the genomic and epigenomic landscape of ATRTs and identify subgroup-specific therapeutic targets. We found ATRTs segregated into three epigenetic subgroups with distinct genomic profiles, SMARCB1 genotypes, and chromatin landscape that correlated with differential cellular responses to a panel of signaling and epigenetic inhibitors.

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Blunt and penetrating cardiovascular (CV) injuries are associated with a high morbidity and mortality. Rapid detection of these injuries in trauma is critical for patient survival. The advent of multi-detector computed tomography (MDCT) has led to increased detection of CV injuries during rapid comprehensive scanning of stabilized major trauma patients.

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Purpose: Myxopapillary ependymoma (MPE) is a distinct histologic variant of ependymoma arising commonly in the spinal cord. Despite an overall favorable prognosis, distant metastases, subarachnoid dissemination, and late recurrences have been reported. Currently, the only effective treatment for MPE is gross-total resection.

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Article Synopsis
  • In childhood brain tumors, the alternative lengthening of telomeres (ALT) is found primarily in malignant cases, with significant prevalence in specific tumor types like primitive neuroectodermal tumors and high-grade gliomas.
  • The presence of somatic TP53 mutations is strongly linked to ALT, while only ATRX mutations show a moderate association.
  • ALT appears to improve survival rates in pediatric patients with TP53 mutant gliomas and choroid plexus carcinomas, suggesting its potential role in influencing treatment outcomes and informing risk stratification.
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Article Synopsis
  • * The study investigated telomerase activity in primary ependymomas using various assays and found over 60% of these tumors depend on telomerase for telomere maintenance, impacting patient survival rates.
  • * Treatment with Imetelstat, a telomerase inhibitor, not only reduced tumor growth and cell proliferation in models but also demonstrated potential to eliminate the tumorigenicity of TICs, suggesting a promising new approach for treating high-risk pediatric ependymomas.
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Unlabelled: Alkylating agents are a first-line therapy for the treatment of several aggressive cancers, including pediatric glioblastoma, a lethal tumor in children. Unfortunately, many tumors are resistant to this therapy. We sought to identify ways of sensitizing tumor cells to alkylating agents while leaving normal cells unharmed, increasing therapeutic response while minimizing toxicity.

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Amplification of the C19MC oncogenic miRNA cluster and high LIN28 expression has been linked to a distinctly aggressive group of cerebral CNS-PNETs (group 1 CNS-PNETs) arising in young children. In this study, we sought to evaluate the diagnostic specificity of C19MC and LIN28, and the clinical and biological spectra of C19MC amplified and/or LIN28+ CNS-PNETs. We interrogated 450 pediatric brain tumors using FISH and IHC analyses and demonstrate that C19MC alteration is restricted to a sub-group of CNS-PNETs with high LIN28 expression; however, LIN28 immunopositivity was not exclusive to CNS-PNETs but was also detected in a proportion of other malignant pediatric brain tumors including rhabdoid brain tumors and malignant gliomas.

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Diffuse intrinsic pontine glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children, with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate location of these tumors and to the selection of therapies on the basis of assumptions that DIPGs are molecularly similar to adult disease. Recent studies have unraveled the unique genetic makeup of this brain cancer, with nearly 80% found to harbor a p.

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Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner.

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