Publications by authors named "J Slopis"

Article Synopsis
  • Malignant peripheral nerve sheath tumors (MPNSTs) show altered DNA methylation patterns, suggesting these changes could be used as specific biomarkers for NF1 patient screening.
  • Researchers conducted a study involving DNA methylation profiling from tumor and adjacent tissue samples of 13 MPNST patients, finding 73 candidate CpGs that could distinguish MPNSTs from neurofibromas.
  • Five validated biomarkers demonstrated high sensitivity and specificity in tissue detection, and higher methylation levels were observed in plasma tests, indicating potential for early detection of MPNST in NF1 patients.
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Article Synopsis
  • There are major gaps in understanding how immunotherapy affects the nervous system in children, mostly due to a lack of research focused on pediatric patients.
  • Identifying and grading the neurotoxic effects of immunotherapy in children is complicated by inconsistent terminology and the variation in treatment responses based on factors like disease type and therapy methods.
  • The review emphasizes the need for further research into the specific neurotoxic effects of various immunotherapy approaches in pediatric oncology, as well as the unique challenges presented by combining therapies.
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Purpose: The purpose of this article was to provide an overview of syndromic gliomas.

Design: The authors conducted a nonsystematic literature review.

Results: Cancer predisposition syndromes (CPSs) are genetic conditions that increase one's risk for certain types of cancer compared with the general population.

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We present, to our knowledge, the first reported case of germline neurofibromatosis Type 2 (NF2) associated with renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) with somatic loss by immunohistochemistry of the tumor suppressor gene located centromeric to NF2 on chromosome 22q. Our patient is a 15-year-old with germline neurofibromatosis Type 2 (NF2) confirmed by pathogenic mutation of c.-854-??46+??deletion.

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