Publications by authors named "Kathleen Gewandter"
Article Synopsis
- Next-generation sequencing has revealed pathogenic TP53 variants in patients without typical Li-Fraumeni syndrome (LFS) histories, which may indicate low-penetrance or mosaic LFS.
- The presence of uncertain significance TP53 variants in those with suspected LFS complicates diagnosis, requiring careful interpretation for proper medical care.
- A retrospective case review illustrates how multidisciplinary approaches and flowcharts can aid in interpreting challenging TP53 results, presenting eight cases to enhance understanding in clinical settings.
Sclerosing polycystic adenosis, initially considered a non-neoplastic salivary gland lesion and classified as such in the 2017 WHO Classification of Head and Neck Tumors, has been the subject of controversy regarding its possible neoplastic nature. The reporting of recurrent PI3K pathway alteration represents evidence to support these lesions as being neoplastic and more appropriately referred to as sclerosing polycystic adenoma (SPA). Herein, we provide additional evidence that supports the classification of SPA as a true neoplasm.
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