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TFE3-rearranged perivascular epithelioid cell tumors of the head and neck with rare fusion partners: clues to the differential diagnosis between benign and malignant tumors.
Diagn Pathol
January 2025
Department of Diagnostic Pathology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Background: Perivascular epithelioid cell tumors (PEComas) rarely appear in the head and neck region. This case report describes two transcription factor E3 (TFE3)-rearranged PEComa cases, consisting of one in the orbit and one in the nasal cavity.
Case Presentation: Both cases demonstrated sheet-like or focal nested architecture and comprised epithelioid cells with abundant clear to eosinophilic cytoplasm and vascular stroma.
A Rare Case of Epithelioid Haemangioendothelioma of the Lateral Orbit in a 22-Year-Old Patient.
Cureus
January 2025
Oral and Maxillofacial Surgery, Queen Elizabeth Hospital Birmingham, Birmingham, GBR.
Epithelioid haemangioendothelioma (EHE) is a rare vascular neoplasm characterised by proliferation of vascular endothelial and pre-endothelial cells. The prevalence is less than one in a million people. It is principally observed in the soft tissues of the extremities but can also occur in the bone, brain, liver, lung and lymph nodes.
View Article and Find Full Text PDFTFE3 -rearranged Head and Neck Neoplasms : Twenty-two Cases Spanning the Morphologic Continuum Between Alveolar Soft Part Sarcoma and PEComa and Highlighting Genotypic Diversity.
Am J Surg Pathol
February 2025
Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Prague.
TFE3 rearrangements characterize histogenetically, topographically, and biologically diverse neoplasms. Besides being a universal defining feature in alveolar soft part sarcoma (ASPS) and clear cell stromal tumor of the lung, TFE3 fusions have been reported in subsets of renal cell carcinoma, perivascular epithelioid cell tumor (PEComa), epithelioid hemangioendothelioma and ossifying fibromyxoid tumors. TFE3 -related neoplasms are rare in the head and neck and may pose diagnostic challenges.
View Article and Find Full Text PDFPediatric Mesenchymal Tumor With MN1::TAF3 Fusion.
Genes Chromosomes Cancer
November 2024
Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan.
MN1 fusion is emerging as oncogenic in soft-tissue tumors. Here, we provided detailed clinicopathological documentation of a tumor with MN1::TAF3 fusion. The tumor developed on the face of an 8-year-old boy and did not recur or metastasize for 5 years after surgery without adjuvant therapy.
View Article and Find Full Text PDFGain of chromosome 8q and high expression of EZH2 may predict poor prognosis in Chinese patients with uveal melanoma.
Asia Pac J Ophthalmol (Phila)
October 2024
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, PR China; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai 200011, PR China. Electronic address:
Article Synopsis
- The study aimed to identify risk factors for poor prognosis in uveal melanoma among a Chinese population, focusing on the genetic markers monosomy 3, 8q gain, and EZH2 staining.
- Examining 89 patient cases from 2012 to 2021, researchers conducted immunohistochemical analysis and evaluated survival rates using statistical methods like Kaplan-Meier and Cox regression.
- Key findings indicated that factors such as age, tumor size, stage, and the presence of 8q gain and high EZH2 expression were linked to higher rates of distant metastasis, while monosomy 3 showed no significant association in this study.
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