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Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant.
Genes Chromosomes Cancer
February 2024
Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Article Synopsis
- * Researchers found a new type of genetic fusion (WWTR1::TFE3) in a patient with EHE that has both features of two main subtypes.
- * They also discovered other mutations in the tumor and studied how the new fusion protein affects cell growth in experiments.
Novel NONO::TFE3 fusion and ALK co-expression identified in a subset of cutaneous microcystic/reticular schwannoma.
Virchows Arch
August 2023
Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, 2119 E 93rd Street, L15, Cleveland, OH, 44195, USA.
Microcystic/reticular schwannoma (MRS) is a benign variant of schwannoma with a predilection for the gastrointestinal tract and skin. To date, genetic characterization of this tumor is limited. Prompted by the identification of TFE3::NONO fusion and ALK overexpression in an index case of MRS, a cohort of tumors was collected from institutional and consultation archives of two institutions.
View Article and Find Full Text PDFClear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion.
Diagn Pathol
January 2023
Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Studničkova 2, 128 00, Prague 2, Czech Republic.
Article Synopsis
- Clear cell (hemangioblastoma-like) stromal tumor of the lung (CCSTL) is a rare type of lung tumor, and recent findings link it to the YAP1-TFE3 gene fusion.
- A case study featured a 57-year-old male with a 45 mm lung nodule, showing specific microscopic and immunohistochemical characteristics.
- The study's results reinforce the idea that the YAP1-TFE3 fusion is a typical feature of CCSTL, potentially helping in its classification and understanding.
Chameleon TFE3-translocation RCC and How Gene Partners Can Change Morphology: Accurate Diagnosis Using Contemporary Modalities.
Adv Anat Pathol
May 2022
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA.
Translocation renal cell carcinoma (tRCC) with TFE3 gene rearrangements has been born as a distinct entity 20 years ago. These relatively rare tumors were notable among other RCC subtypes because of their disproportionally high incidence among children and young adults. Initial reports were focused on describing unifying morphologic criteria and typical clinical presentation.
View Article and Find Full Text PDFXp11.2 Translocation Renal Cell Carcinoma With Rearrangement: Distinct Morphological Features and Prognosis With Different Fusion Partners.
Front Oncol
November 2021
Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Guangzhou, China.
Background: Renal cell carcinoma (RCC) associated with Xp11.2 translocation/ gene fusion is a rare and new subtype of RCC and was classified by the WHO in 2004. Since then, multiple 5' fusion partners for have been reported; however, the impact of individual fusion variant on specific clinicopathologic features of Xp11.
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